1,739 results on '"Polimorfismo"'
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2. GENE POLYMORPHISM AND HAPLOTYPE OF HUMAN MICRORNA146a IN INFERTILE IRAQI WOMEN INFECTED WITH LATENT TOXOPLASMOSIS.
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Hilal, Amna Mohammed, Salih Almohaidi, Asmaa M., and Ardalan, Naksheen Merza
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FEMALE infertility , *PARASITIC diseases , *HAPLOTYPES , *GENETIC variation , *GENETIC polymorphisms - Abstract
Introduction: Toxoplasmosis is a parasitic disease caused by Toxoplasma gondii that has been associated with infertility in women. Aims: This study investigated the relationship between miRNA146a gene polymorphisms and infertility in Iraqi females infected with toxoplasmosis. Methods: A total of 80 females aged 18-45 years were enrolled, divided into two groups: 40 infertile women with latent toxoplasmosis and 40 fertile controls. Genotyping of miRNA146a was performed using polymerase chain reaction (PCR) and sequencing. Results and Discussion: The results showed that the CC genotype of rs2910164 was associated with a higher risk of infertility and toxoplasmosis infection. Additionally, the CAAA haplotype was found to be a risk factor for infertility and toxoplasmosis, while the CAAG and GTGA haplotypes were protective against the disease. The study suggests that miRNA146a gene polymorphisms may play a crucial role in the susceptibility to toxoplasmosis infection and infertility in Iraqi females. These findings have important implications for the diagnosis and prevention of toxoplasmosis-related infertility. Conclusion: This study provides evidence for the association between specific genetic variants and susceptibility to toxoplasmosis-related infertility, contributing to our understanding of genetic risk factors in this condition. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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3. Arilaminas N-acetiltransferasas 1 y 2: fisiología, genética y epigenética.
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Hernández-González, Oswaldo, Martínez-Leija, Miguel E., Paz-Rodríguez, Víctor A., and Portales-Pérez, Diana P.
- Abstract
Copyright of Gaceta Médica de México is the property of Publicidad Permanyer SLU and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2024
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4. Determinación del polimorfismo pro12ala en el receptor activado por proliferadores de peroxisomas gamma-2 en pacientes que padecen diabetes mellitus tipo 2
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Evelyn Visuete, Tomás A. Diez, Edgardo Castro, Magaly de Chial, Ana E. Tejada, and Carlos W. Ramos D.
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PPARγ2 ,polimorfismo ,diabetes mellitus ,población panameña ,Mathematics ,QA1-939 ,Physics ,QC1-999 - Abstract
La diabetes mellitus es un grupo de trastornos metabólicos comunes que comparten el fenotipo de hiperglucemia. El polimorfismo Pro12Ala en el exón B del gen que codifica para PPARg2 ha sido asociado en algunas poblaciones con diabetes tipo 2. El objetivo de este estudio fue determinar si existe asociación del polimorfismo Pro12Ala de PPARg2 y la diabetes mellitus tipo 2 en una muestra de la población panameña. Se evaluó la posible asociación del polimorfismo Pro12Ala en una muestra de 195 individuos (99 controles y 96 experimentales) de la población panameña. El polimorfismo Pro12Ala se detectó mediante análisis de reacción en cadena de la polimerasa y polimorfismo de longitud de fragmentos de restricción (PCR-RFLP). Se observó una mayor frecuencia del genotipo Pro12Ala en el grupo experimental (DM2) con respecto al grupo control (0.114 vs 0.010). La frecuencia del alelo Ala12 (alelo de menor frecuencia) en nuestro estudio fue de 2.8%. Este trabajo representa el primer estudio sobre asociación entre diabetes mellitus tipo 2 y el polimorfismo Pro12Ala (rs18012829) en una muestra de casos y controles. La razón de momios (OR) evidenció asociación con un riesgo relativo de 1.9735 en aquellos con genotipo Pro12Ala. La frecuencia del genotipo Pro12Ala fue mayor en mujeres lo cual sugiere que éstas pueden estar más predispuestas a desarrollar esta condición.
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- 2025
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5. Polimorfismos no gene receptor de Vitamina D e a suscetibilidade e progressão da doença renal crônica
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Jalila Andréa Sampaio Bittencourt, Naruna Aritana Costa Melo, Margareth Santos Costa Penha, Maria Eduarda Azevedo, Lucas Almeida das Chagas, Yuri Armin Crispim de Moraes, and Allan Kardec Duailibe Barros Filho
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Doença Renal Crônica ,Polimorfismo ,Gene VDR ,Biotechnology ,TP248.13-248.65 ,Food processing and manufacture ,TP368-456 - Abstract
As doenças crônicas não transmissíveis (DCNT) são consideradas um dos maiores problemas de saúde pública. Dentre elas, destaca-se a doença renal crônica (DRC), que é caracterizada pela alteração da função renal. Assim como na DRC, a hipovitaminose D também se tornou um problema de saúde pública crescente na população. Muitos fatores podem explicar os baixos níveis dessa vitamina e sua suplementação é comumente utilizada como terapia auxiliar em pacientes com DRC. Entretanto, os efeitos nefroprotetores da vitamina D são mediados pelo gene receptor de vitamina D – VDR e uma alteração genética nesse receptor pode reduzir a efetividade dos tratamentos, piorando o prognóstico da doença. Este trabalho teve como objetivo revisar estudos que investigaram a associação entre polimorfismos do gene VDR e a suscetibilidade e progressão da DRC publicados nos últimos 10 anos (entre 2013 a 2023). A partir de uma busca nas bases de dados PUBMED, LILACS e COCHRANE, foram incluídos nove artigos que investigaram essa associação. Efeitos cardiometabólicos, seguidos de doença renal terminal e osteodistrofia foram os desfechos clínicos mais observados. Estes desfechos se associam aos diferentes polimorfismos do VDR. Mais estudos de associações genéticas para descrever os efeitos do polimorfismo do gene VDR sobre a DRC são necessários.
- Published
- 2024
6. La tejedora de coronas y el polimorfismo literario.
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García Arias, Pablo
- Abstract
Copyright of Cuadernos de Historia del Arte is the property of Cuadernos de Historia de Arte and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2024
7. COMPONENTES GENÉTICOS RELACIONADOS CON LA RUPTURA DEL LIGAMENTO CRUZADO ANTERIOR: IMPLICACIONES EN EL DEPORTE.
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Arroyo-Moya, Wilson, Rodríguez-Buitrago, Alonso, Buitrago-Espitia, Jorge, Prieto-Mondragón, Laura, Ordoñez-Saavedra, Nestor, and Duarte, Araujo
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ANTERIOR cruciate ligament injuries ,SINGLE nucleotide polymorphisms ,GENOTYPES ,HERITABILITY ,ALLELES - Abstract
Copyright of Journal of Sport & Health Research is the property of Journal of Sport & Health Research and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2024
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8. ASSOCIAÇÃO DO POLIMORFISMO DO GENE LIGANTE DE MORTE PROGRAMADA-1 (PD-L1) COM O CÂNCER DE MAMA.
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de Aragão Bezerra, Diego, das Chagas Medeiros, Francisco, Loiola Vasconcelos, Janssen, Barbalho Silva, Anderson Weiny, Teixeira de Assis, Ernando Igo, de Aragão Bezerra, Yuri Matos, Passos Bezerra, Tárcilla Pinto, and Juvenal Linhares, José
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IMMUNE checkpoint proteins ,SINGLE nucleotide polymorphisms ,BRCA genes ,LITERATURE reviews ,BREAST cancer research ,BREAST - Abstract
Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2024
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9. Sprint and Anaerobic Power with the Soccer-Specific ACTN3 Gene: A Distintive Example.
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Söyler, Mehmet, Zileli, Raif, Özkamçı, Hüseyin, Diker, Gürkan, Sever, Mehmet Onur, Bayrakdaroglu, Serdar, Ön, Sadi, Can, Ibrahim, Ulucan, Korkut, Aslan, Beste Tacal, Polat, Tolga, and Yılmaz, Özlem Özge
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SPRINTING , *MANN Whitney U Test , *GENETIC polymorphisms , *SOCCER players , *NUCLEIC acid isolation methods , *GAUSSIAN distribution , *EPITHELIAL cells - Abstract
The aim of this study is twofold: (1) to identify differences in certain anaerobic parameters (10m sprint, 30m sprint, anaerobic power, and Illinois agility tests) between professional and amateur soccer players, and (2) to determine whether there is a difference in the ACTN3 gene polymorphism between professional and amateur soccer players. Ultimately, the goal is to reveal which parameters contribute to the differentiation in these two aspects. A total of 133 volunteer soccer players, including 71 professionals and 62 amateurs, participated in the research. DNA extraction from buccal epithelial cells was performed using a commercial kit to determine the genetic background of the athletes, and Real-Time PCR was conducted for genotyping. Statistical analysis of the findings obtained from the test results was performed using the SPSS 23 (SPSS Inc., Chicago, IL, USA) package program. The homogeneity of variance of the data was assessed using the Levene Test, and normal distribution analyses were conducted using the Shapiro-Wilk Test. Chi-square and Mann-Whitney U tests were employed for parameter analysis. The significance level was set at p<0.05. Evaluation of the data in our study revealed no statistically significant difference in ACTN3 rs1815739 gene polymorphism between the groups (p>0.05). However, there is a statistically significant difference in anaerobic parameters (10m sprint, 30m sprint, and anaerobic power) except for the Illinois test (p<0.05). In conclusion, our study found that gene polymorphism is not a differentiating factor between professional and amateur soccer players, but speed (10m and 30m) and anaerobic power parameters are differentiating factors. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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10. Modelos genotípicos de polimorfismo em lagartos Uta stansburiana baseados no jogo pedra-papel-tesoura
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Marcelo Cargnelutti Rossato and Marcus Aloizio Martinez de Aguiar
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polimorfismo ,lagarto-de-mancha-lateral ,teoria dos jogos ,dinâmica de populações ,modelos discretos ,Special aspects of education ,LC8-6691 ,Mathematics ,QA1-939 - Abstract
Nas populações de lagartos Uta stansburiana ocorre um notável polimorfismo de coloração nas gargantas, com tons de laranja, amarelo e azul. Esses fenótipos são determinados por dois alelos que correspondem, cada um, a uma das possíveis cores e seguem uma relação de dominância. Dois modelos, um não espacial e outro espacial, foram desenvolvidos para analisar as interações comportamentais desses fenótipos por meio de um jogo pedra-papel-tesoura e levando em conta também os possíveis genótipos. Com o modelo não espacial foram encontrados cenários em que a coexistência dos três fenótipos era estável e em que era instável, enquanto os resultados do modelo espacial foram próximos desses equilíbrios de coexistência. Notou-se ainda uma forte influência do tamanho da vizinhança nos resultados do modelo espacial, no qual vizinhanças maiores geraram resultados menos oscilatórios e mais próximos do equilíbrio do modelo não espacial.
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- 2024
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11. POLIMORFISMOS NO GENE RECEPTOR DE VITAMINA D E A SUSCETIBILIDADE E PROGRESSÃO DA DOENÇA RENAL CRÔNICA.
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Sampaio Bittencourt, Jalila Andréa, Costa Melo, Naruna Aritana, Costa Penha, Margareth Santos, Eduarda Azavedo, Maria, Almeida das Chagas, Lucas, Crispim de Moraes, Yuri Armin, and Duailibe Barros Filho, Allan Kardec
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VITAMIN D receptors , *CHRONIC kidney failure , *NON-communicable diseases , *TREATMENT effectiveness , *DIETARY supplements - Abstract
Chronic non-communicable diseases (NCD) are considered one of the biggest public health problems. Among them, chronic kidney disease (CKD) stands out, which is characterized by the alteration of renal function. As with CKD, hypovitaminosis D has also become an increasing public health problem in the population. Many factors can explain the low levels of this vitamin and its supplementation is commonly used as an auxiliary therapy in patients with CKD. However, the nephroprotective effects of vitamin D are mediated by the vitamin D receptor gene - VDR, and a genetic alteration in this receptor can reduce the effectiveness of treatments, worsening the disease prognosis. This work aimed to review studies that investigated the association between VDR gene polymorphisms and CKD susceptibility and progression in the last 10 years (between 2013 and 2023). Based on a search in the PUBMED, LILACS and COCHRANE databases, nine articles that investigated this association were included. Cardiometabolic effects, followed by end-stage renal disease, and osteodystrophy were the most frequently observed clinical outcomes. These outcomes are associated with the different polymorphisms of the VDR. Furthermore, studies of genetic associations to describe the effects of VDR gene polymorphism on CKD are needed. [ABSTRACT FROM AUTHOR]
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- 2024
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12. Modelos de altura dominante para Gmelina arborea Roxb. en Colombia.
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Collazos Avendaño, Julio Cesar, Barrios Trilleras, Alonso, and Diaz Sierra, Daniel Ronaldo
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FOREST productivity , *TREE farms , *ASYMPTOTES , *POLYMORPHISM (Zoology) , *EQUATIONS - Abstract
The concept of forest productivity is biologically complex. In forest masses, it is indirectly estimated via dominant height growth models and site indices. The aim of this study was to develop a dominant height model for Gmelina arborea using data from 129 monitoring plots. 9 dynamic equations were generated from the Hossfeld and Bertalanffy-Richards theoretical models, which were individually fitted and cross-validated. Among the evaluated models, the Bertalanffy-Richards model (parameter c) stood out. This model showed a logical biological trend, with polymorphic curves and a unique asymptote. The selected model is an important tool for the management of G. arborea forest plantations in areas with site characteristics similar to those of this study. [ABSTRACT FROM AUTHOR]
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- 2024
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13. Genomic characterization of Puccinia triticina using molecular marker technology.
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Usman, M., Habib, M., Sathish, M., Iqbal, S., Altaf, J., Ahmad, Z., ur Rehman, A., Khan, A. I., Maqbool, R., Hussain, S., Saleem, F., Kashif, Z., and Awan, F. S.
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LEAF rust ,PUCCINIA triticina ,RAPD technique ,GENETIC variation ,GENE flow ,RUST diseases - Abstract
Copyright of Brazilian Journal of Biology is the property of Instituto Internacional de Ecologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2024
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14. Ecophenotypic Variation of Midas Cichlid, Amphilophus citrinellus (Gunther, 1864), in Lake Batur, Bali, Indonesia.
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Gustiano, R., Haryani, G. S., Aisyah, S., Nur, F. M., Kartika, Gde. R. A., Noegroho, T., Arthana, I. W., Albasri, H., Larashati, S., Haryono, H., Kusmini, I. I., Yosmaniar, Y., Syam, A. R., Taufik, I., Setiadi, E., and Permana, I. G. N.
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CRATER lakes ,WATER quality ,FISH populations ,CICHLIDS ,DIGITAL photography ,WATER quality monitoring - Abstract
Copyright of Brazilian Journal of Biology is the property of Instituto Internacional de Ecologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2024
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15. Sumbawa cattle: a study of growth hormone (GH) gene variants and their association with biometric traits.
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Prihandini, P. W., Hasinah, H., Sari, A. P. Z. N. L., Tribudi, Y. A., Praharani, L., Asmarasari, S. A., Handiwirawan, E., Tiesnamurti, B., Robba, D. K., Romjali, E., and Ibrahim, A.
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GENETIC variation ,CATTLE weight ,GENETIC polymorphisms ,LINKAGE disequilibrium ,HAPLOTYPES - Abstract
Copyright of Brazilian Journal of Biology is the property of Instituto Internacional de Ecologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2024
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16. Association of polymorphic variants of prolactin (PRL) and beta-lactoglobulin (BLG) genes with resistance/susceptibility to mastitis in holstein cows.
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Beishova, I., Belaya, A., Kuzhebayeva, U., Ulyanova, T., Ulyanov, V., Beishov, R., Ginayatov, N., Kovalchuk, A., Kharzhau, A., and Sidarova, A.
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RESTRICTION fragment length polymorphisms ,HOLSTEIN-Friesian cattle ,CATTLE breeds ,POLYMERASE chain reaction ,MASTITIS - Abstract
Copyright of Brazilian Journal of Biology is the property of Instituto Internacional de Ecologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2024
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17. A CATEGORICAL MODELLING APPROACH TO SITE AND GROWTH OF EUCALYPTUS STANDS IN BRAZILIAN EASTERN AMAZON.
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da Cunha Neto, Ernandes Macedo, Guaraná Araujo, Emmanoella Costa, Pessoa Veras, Hudson Franklin, Libanio Pelissari, Allan, Cardoso Silva, Thiago, Dalla Corte, Ana Paula, and Roberto Sanquetta, Carlos
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PLANT clones ,SITE index (Forestry) ,EUCALYPTUS ,FOREST productivity ,CLONING ,PARSIMONIOUS models ,POLYMORPHISM (Zoology) ,MODEL validation ,TREES - Abstract
Copyright of Environmental & Social Management Journal / Revista de Gestão Social e Ambiental is the property of Environmental & Social Management Journal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2023
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18. The Distinguishing Factor in Soccer Players is Aerobic Performance, not the ACTN3 Gene.
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Zileli, Raif, Söyler, Mehmet, Diker, Gürkan, Özkamçı, Hüseyin, Bayrakdaroglu, Serdar, Sever, Mehmet Onur, Can, Ibrahim, Ön, Sadi, Aslan, Beste Tacal, Ulucan, Korkut, Polat, Tolga, and Yılmaz, Özlem Özge
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SOCCER players , *STATURE , *BODY weight , *STATISTICAL significance , *EPITHELIAL cells , *FAT - Abstract
The purpose of this study was to reveal the differences between ACTN3 genotype (RR, RX, XX) and aerobic performance [Yo-Yo IRT1 (m), VO2max (ml/kg/min)] in professional and regional amateur league soccer players and to reveal which of these parameters was a distinctive factor in these athletes.71 professional soccer players (age: 23.66 ±4.11 years; body height: 1.79 ± 6.99 m; body weight: 76.02 ± 6.76 kg; body fat: 11.59±3.11 %) and 62 regional amateur soccer players (age: 23.63 ±3.77 years; body height: 1.81 ± 5.77 m; body weight: 76.36 ± 7.53 kg; body fat: 15.60±4.65 %) volunteered for the study. After DNA extraction from buccal epithelial cells via a commercial kit was performed for the genetic background of the athletes, Real-Time PCR was carried out for genotyping. Furthermore, Yo-Yo IRT1 test was performed to determine the aerobic performance of the soccer players. SPSS 23 (SPSS Inc., Chicago, IL, USA) package program was used for the statistical analysis of the data obtained in the tests. Shapiro-Wilk test for normality and Levene's test for homogeneity of variance were performed. Chi-Square, Independent Sample T Test and One Way ANOVA test were used in the analysis of the parameters. Statistical significance was set as p<0.05. In the study, there found no meaningful statistical significance in terms of the rs1815739 polymorphism in the ACTN3 gene between the groups (p>0.05); however, there was a statistical significance in favor of professional soccer players in terms of aerobic parameters (p<0.05). Consequently, it can be said that aerobic performance is the distinguishing factor, not the ACTN3 gene, in soccer players. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
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19. Genetic variability of wild palms Euterpe precatoria, Euterpe oleracea and Mauritia flexuosa with molecular markers ISSR.
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Morillo-Coronado, Yacenia, Rojas-González, Salvador, Cruz Morillo-Coronado, Ana, Camilo Castañeda-Cardona, Christian, Julieth Mendoza-Romero, Karem, and Marín-Colorado, Jaime
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ACAI palm ,GENETIC variation ,PALMS ,MICROSATELLITE repeats ,ORNAMENTAL plants ,BIOLOGICAL evolution - Abstract
Copyright of Revista de Ciencias Agricolas is the property of University of Narino, Faculty of Agricultural Sciences and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2023
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20. Evaluación del polimorfismo Pro12Ala del gen PPARg en mujeres con diabetes mellitus gestacional.
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Cruz, Didilia Rodríguez, Ignacio Mejía, Iván, Ayvar, Yanine Anahí Márquez, Vargas Hernández, Marco Antonio, and Sánchez Monroy, Virginia
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GESTATIONAL diabetes ,GENETIC polymorphisms ,PREGNANT women ,HIGH-risk pregnancy ,HYPERGLYCEMIA ,ABORTION ,ALLELES - Abstract
Copyright of Ginecología y Obstetricia de México is the property of Federacion Mexicana de Ginecologia y Obstetricia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2023
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21. Determination of homeodomain interacting protein kinase 2 polymorphisms rs2058265, rs6464214, and rs7456421 in patients with kidney stone.
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Ceylan, Cavit, Gokhan-Doluoglu, Omer, Taştemur, Sedat, Keleş, Ibrahim, Ceylan, Gulay, Cevdet-Ceylan, Ahmet, Uzun, Emre, and Tokat, Eda
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HOMEOBOX proteins ,GENETIC polymorphisms ,KIDNEY stones ,SINGLE nucleotide polymorphisms ,ALLELES - Abstract
Copyright of Cirugía y Cirujanos is the property of Publicidad Permanyer SLU and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2023
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22. Polimorfismo de proteína 5,10-metilentetrahidrofolato reductasa en población venezolana
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Mary Carmen Chacin, Martha Bravo, and Anabel Arends
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mthfr c677t ,mthfr a1298c ,polimorfismo ,farmacogenética ,Medicine - Abstract
El folato es un miembro del grupo de la vitamina B y está relacionado con enfermedades crónicas como anemia megaloblástica, enfermedad cardiovascular, cáncer, disfunción cognitiva y riesgo de defectos del tubo neural. La proteína 5,10- metilentetrahidrofolato reductasa (MTHFR) juega un papel clave en el metabolismo del folato mediante la síntesis de nucleótidos y reacciones de metilación. El gen MTHFR se encuentra en el cromosoma 1 (1p36.3), y se han descrito dos alelos comunes, el alelo C677T (termolábil) y el alelo A1298C. El objetivo de este estudio es evaluar la distribución de los polimorfismos genéticos en MTHFR C677T y A1298C en la población venezolana. METODOS: estudio de tipo transversal, descriptivo, experimental y correlacional Las muestras de sangre se colectaron en 314 donantes no emparentados y sanos de la población. Los polimorfismos de un solo nucleótido (SNP) MTHFR 677C>T y 1298A>C se analizaron mediante polimorfismo de longitud de fragmento de restricción de reacción en cadena de polimerasa (PCR-RFLP). El desequilibrio de ligamiento (LD) entre pares de SNP se calculó mediante la prueba X. usando Prism 5 (GraphPad software, Inc). RESULTADOS: Encontramos mayor frecuencia genotípica de heterocigotos para el polimorfismo MTHFR C677T en la población general venezolana, con excepción del grupo caucásico. El polimorfismo MTHFR A1298C en el 70% de la población de estudio es homocigoto de tipo salvaje, encontrándose una baja frecuencia de homocigoto mutado. CONCLUSIONES: Se encontraron diferencias significativas entre grupos étnicos, destacando la importancia del genotipado racial de estos polimorfismos en la población venezolana.
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- 2023
- Full Text
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23. Efectos de los Polimorfismos del Transportador y de los Receptores de Serotonina en la Depresión.
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López-Echeverri, Yéssica P., Cardona-Londoño, Kelly J., Garcia-Aguirre, Jhonny F., and Orrego-Cardozo, Mary
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SEROTONIN transporters ,SEROTONIN receptors ,LITERATURE reviews ,SCIENCE databases ,BRAIN anatomy ,EMOTIONAL state ,SEROTONIN syndrome - Abstract
Copyright of Revista Colombiana de Psiquiatria is the property of Asociacion Colombiana de Psiquiatria and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2023
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24. Prolegomena a una nuova edizione critica delle opere volgari di Bonvesin da la Riva.
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Wilhelm, Raymund
- Abstract
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- 2023
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25. Polymorphisms associated with susceptibility to dental caries
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Pamela Lisbeth Alban Zambrano, Apaica Sayaquima Allauca Anaguarqui, and Verónica Alejandra Salame Ortiz
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polimorfismo ,genes ,susceptibilidad ,caries ,proteínas ,Medicine ,Medicine (General) ,R5-920 - Abstract
The susceptibility to present and develop dental caries is closely linked to the host genome. The main objective of this research is to identify, categorize and define the genes and their main polymorphisms which through experimental methods have been associated with susceptibility to dental caries. Genes involved in the development of enamel, as well as genes related to the preference for sweet tastes have been associated with susceptibility to dental caries. Among the genes involved in the development of enamel whose polymorphisms have an impact on this susceptibility are AMEL, ENAM, AMBN, MMP TUFT1 and KLK4, and the genes associated with taste whose polymorphisms are associated with TAS1R2 and TAS1R3. In addition, within these genes, polymorphisms have been discovered that act in a protective manner against carious lesions.
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- 2023
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26. Variations in heterochromatin content reveal important polymorphisms for studies of genetic improvement in garlic ( Allium sativum L.).
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Bacelar, P. A. A., Feitoza, L. L., Valente, S. E. S., Gomes, R. L. F., Martins, L. V., Almeida, P. M., Silva, V. B., Lopes, A. C. A., Carvalho, R., and Peron, A. P.
- Subjects
KARYOTYPES ,GARLIC ,GENETIC polymorphisms ,HETEROCHROMATIN ,CHROMOSOMES ,CHROMATIN ,GENETIC variation - Abstract
Copyright of Brazilian Journal of Biology is the property of Instituto Internacional de Ecologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2023
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27. Toll-like receptor 9 polymorphisms in brazilian patients with systemic lupus erythematosus: a pilot study.
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Barbosa, L. M., Santiago, M. B., Moretto, V. T., Athanazio, D., Takahashi, D., Reis, E. G., Lopes, M., Lemaire, D., and Reis, M. G.
- Subjects
SYSTEMIC lupus erythematosus ,TOLL-like receptors ,GENE frequency ,PILOT projects ,SYMPTOMS - Abstract
Copyright of Brazilian Journal of Biology is the property of Instituto Internacional de Ecologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2023
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28. Characterization of the species of genus Physa on the basis of typological species concept from Central Punjab.
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Aziz, S., Altaf, J., Ramzan, A., Ahmed, Z., Qamar, S. U. R., Awan, S. A., Khalil, S., Jehangir, K., Khalid, R., Ansari, B., Sultana, T., Sultana, S., Alsamadany, H., Alshamrani, R., and Awan, F. S.
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COCKROACHES ,PRINCIPAL components analysis ,SPECIES ,VERNIERS ,BODIES of water ,REGRESSION analysis - Abstract
Copyright of Brazilian Journal of Biology is the property of Instituto Internacional de Ecologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2023
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29. Molecular Phylogenetics of Physa acuta (Pulmonata: Basommatophora): an Invasive species in Central Punjab Pakistan.
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Ansari, B., Altafa, J., Ramzan, A., Ahmed, Z., Khalil, S., Qamar, S. U. R., Awan, S. A., Jehangir, K., Khalid, R., Aziz, S., Sultana, T., Sultana, S., Alsamadany, H., Alshamrani, R., and Awan, F. S.
- Subjects
MOLECULAR phylogeny ,PULMONATA ,INTRODUCED species ,GENETIC variation ,BODIES of water - Abstract
Copyright of Brazilian Journal of Biology is the property of Instituto Internacional de Ecologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2023
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30. Polimorfismo asociado a la susceptibilidad a caries dental.
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Alban Zambrano, Pamela Lisbeth, Allauca Anaguarqui, Apaica Sayaquima, and Salame Ortiz, Verónica Alejandra
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DENTAL caries ,GENETIC polymorphisms ,DENTAL enamel ,GENOMES ,ENAMEL & enameling - Abstract
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- Published
- 2023
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31. Human papillomavirus 13 L1 gene polimorphism: first report.
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Cetina-Cetz, Irvin Rodrigo, Conde-Ferráez, Laura, Gómez-Carballo, Jesús, Ayora-Talavera, Guadalupe, and González-Losa, María del Refugio
- Subjects
- *
PAPILLOMAVIRUSES , *GENETIC polymorphisms , *ORAL diseases , *MEDICAL genetics , *DISEASE research - Abstract
Introduction. Human papillomavirus 13 (HPV-13) belonging to Alphapapillomavirus-10 species, is an oral mucosotropic virus phylogenetically related to other human papillomavirus (6, 11, 44, 55 and 74). It causes Multifocal Epithelial Hyperplasia, an uncommon benign oral disease reported mainly amongst ethnic groups from America. Objective. To describe the genetic variability of the HPV-13 L1 gene. Material and Methods. A retrospective study including 50 oral samples from patients with Multifocal Epithelial Hyperplasia, and 25 samples from asymptomatic carriers of HPV-13, all subjects living in Mayan area of Mexico. A fragment 240 bp corresponding to the HPV 13L1 gene, which encodes the major capsid protein was amplified, sequenced, and compared with the only two reference sequences of HPV-13 available. A phylogenetic tree was constructed using PAUP* software. Results. Eight single nucleotide polymorphisms were identified including three synonymous polymorphism and five non-synonymous. According to the phylogenetic tree, the variants were grouped in two branches. Conclusion. This is the first report for the presence of genetic polymorphisms of HPV-13. These results are relevant for future research aiming to identify lineages and sub lineages. Our in-silico analysis suggests that the amino acid changes would be involving structures directly related to antigen recognition, which requires further investigations. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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32. Genotypes Variation of Interferon-gamma gene with chronic hypertension risk.
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Dhabaan, Anwar Abed Nasser
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INTERFERON gamma ,GENOTYPES ,HYPERTENSION ,GENETIC polymorphisms ,GENES ,INTERFERONS ,INTERFERON beta 1b - Abstract
Copyright of Revista Latinoamericana de Hipertension is the property of Revista Latinoamericana de Hipertension and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2022
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33. Genetic variation of Bactericera cockerelli Šulc. (Hemiptera: Triozidae) suggests new haplotype in México.
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BELTRÁN-BEACHE, MARIANA, CARLOS DELGADO-ORTIZ, JUAN, OCHOA-FUENTES, YISA MARÍA, and CERNA CHÁVEZ, ERNESTO
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GENETIC variation ,CYTOCHROME oxidase ,HEMIPTERA ,POLYMORPHISM (Zoology) ,INSECT collection & preservation ,GUANINE ,HAPLOTYPES - Abstract
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- Published
- 2022
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34. AMPLIFICATION AND SELECTION PROFILE OF ISSR MARKERS FOR GENETIC STUDIES IN Calotropis procera.
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SANTOS DIAS, CIBELLE, TOLENTINO SANTOS, LUIZ HENRIQUE, RODRIGUES MEIRA, MESSULAN, LISBOA DOS SANTOS, ELISA SUSILENE, and MORENO CERQUEIRA-SILVA, CARLOS BERNARD
- Subjects
CALOTROPIS procera ,GENETIC markers ,LOCUS (Genetics) ,GENETIC polymorphisms ,GENETIC variation ,PLANT species ,POLYMORPHISM (Zoology) - Abstract
Copyright of Revista Caatinga is the property of Revista Caatinga and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2022
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35. Evaluación del polimorfismo TLR2 Arg753Gln como posible marcador de riesgo para el desarrollo de sepsis.
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PANIAGUA NOGUE, ROXANA, RADA, JAIRO ROJANO, and FERNÁNDEZ-MESTRE, MERCEDES
- Subjects
POLYMERASE chain reaction ,SOCIAL security ,DEATH rate ,SEPSIS ,GENETIC polymorphisms - Abstract
Copyright of Salud Uninorte is the property of Fundacion Universidad del Norte and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2022
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36. Protocolo para la certificación por conformidad genética de clones en jardines de propagación de caucho (Hevea brasiliensis)
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Camilo Andrés Ruíz Avila and Anibal Leonidas Tapiero
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marcadores ,identificación ,polimorfismo ,Biotechnology ,TP248.13-248.65 - Abstract
A partir de visualización por electroforesis capilar de 9 regiones micro-satélites amplificadas con cebadores fluoromarcados se determinó el polimorfismo de los marcadores Hmct5, 102, HV 30, 548, HV 15, 416, m574, 103 y 358 identificados en el ADN de muestras de tejido foliar de 12 clones de caucho (Hevea brasiliensis) conservados en jardines clonales de AGROSAVIA en Colombia y 25 clones en jardines clonales de origen en Brasil. Con base en los resultados del análisis se consolidó una base de datos que permite corroborar la identidad por conformidad de clones de caucho a partir de muestras foliares. El protocolo establecido consiste en una aproximación metodológica para la amplificación de dichas regiones micro-satélites por PCR punto final y la visualización de los fragmentos obtenidos de este procedimiento por electroforesis capilar multiplexada, reduciendo costos y optimizando el tiempo en laboratorio. Adicionalmente se encontraron discrepancias entre el perfil electroforético obtenido del clon FX 3864 muestreado en Colombia con el obtenido en Brasil. Se propone considerar la necesidad de corroborar la identidad de los clones reproducidos en jardines clonales para su comercialización en Colombia, utilizando metodologías sensibles y reproducibles, como la estandarizada en este estudio.
- Published
- 2022
- Full Text
- View/download PDF
37. Relación de los niveles séricos de IL-32 y del polimorfismo rs45499297 con la obesidad en pacientes mexicanos: un análisis de laboratorio e in silico.
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Andrea Martínez-Pérez, Luz, Sarai Becerra-Ruiz, Julieta, Esther García-Aviña, Juana, Denisse González-Sánchez, Grecia, Martínez-Esquivias, Fernando, Isela Vázquez-Jiménez, Sonia, los Santos, Saúl Ramírez-De, Iván López-Pulido, Édgar, Guzmán-Flores, Juan Manuel, Martínez Pérez, Luz Andrea, Becerra-Ruiz, Julieta Sarai, García-Aviña, Juana Esther, González-Sánchez, Grecia Denisse, Vázquez-Jiménez, Sonia Isela, Ramírez-De Los Santos, Saúl, and López-Pulido, Edgar Iván
- Subjects
- *
OBESITY , *INTERLEUKINS , *CROSS-sectional method , *GENETIC polymorphisms , *DISEASE susceptibility , *GENOTYPES - Abstract
Introduction: Background: many genes have been involved in the development of obesity. Interleukin 32 (IL-32) is a proinflammatory cytokine; rs45499297 is a T/C promoter, single-nucleotide polymorphism of the IL32 gene. Objectives: this study aimed to evaluate the rs45499297 polymorphism and its association with obesity. Another objective of this study was to carry out an in silico analysis. Methods: this study was cross-sectional, and included 333 subjects classified by body mass index and fat percentage. The plasma glucose and lipid profile were measured. We measured serum IL-32 protein by ELISA and the rs45499297 polymorphism by PCR-RFLP. We used several databases to build the IL32 gene network and infer transcription factors that bind to this polymorphic site. Results: subjects underweight and with low fat percentages had lower levels of IL-32. CT genotype and allele C were less frequent in the overweight/obesity group than in the normal-weight group. Interestingly, this result remained only in the male gender. We found that the transcription factors Hepatocyte Nuclear Factor and Specificity Protein 1 bind to this polymorphic site. In addition, we infer that IL32 is involved in metabolic pathways related to viral infections. Conclusion: the TC genotype is associated with overweight/obesity. The decrease in levels of IL-32 observed in underweight and low fat percentage groups could be due to an impaired inflammatory profile. The in silico analysis showed that several transcriptional factors bind at this polymorphic site, and that the enrichment of the metabolic pathways is diverse. [ABSTRACT FROM AUTHOR]- Published
- 2022
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38. TXNRD2 (rs35934224) CT genotype as possible protective marker for primary open-angle glaucoma in a Brazilian population.
- Author
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Lins Tenório, Artur, Cavalcanti Lira, Rodrigo Pessoa, Feliciano do Carmo, Rodrigo, Galvão Filho, Roberto Pedrosa, Falcão Neto, Pedro Teixeira, Tenório Vaz, Rinalva, Emidio de Lima, Raul, and Lins Tenório, André
- Subjects
OPEN-angle glaucoma ,BRAZILIANS ,POLYMERASE chain reaction ,SINGLE nucleotide polymorphisms ,GENOTYPES ,GENETIC polymorphisms - Abstract
Copyright of Arquivos Brasileiros de Oftalmologia is the property of Arquivos Brasileiros de Oftalmologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2022
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39. Análisis polimórfico de interleucina IL-1β en pacientes con diagnóstico de Helicobacter pylori, en Tabasco, México
- Author
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Liliam A. Fuentes-Márquez, Luis D. Jiménez-Martínez, and Carlos A. Frías-Quintana
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helicobacter pylori ,interleucina ,pcr ,polimorfismo ,Medicine (General) ,R5-920 ,Public aspects of medicine ,RA1-1270 - Abstract
Introducción. Los estudios sobre la infección de Helicobacter pylori y el gen de IL-1B juega un importante rol dentro de la inflamación y sus propiedades proinflamatorias que promueven a la defensa contra patógenos. Los polimorfismos se han relacionados con una mayor producción de IL-1β asociada a cuadros de hipoclorhidria y desarrollo de cáncer bajo la infección de H. pylori, por lo que el objetivo de este estudio fue evaluar el polimorfismo en la región +3954 (IL-1B C>T) del gen interleucina IL1β. Método. las muestras de sangre fueron donadas y colectadas para ser procesadas para la determinación de H. pylori, mediante Test de ureasa (Proindusquim), en la ciudad de Villahermosa Tabasco, México, separando muestras positivas y negativas (control), las muestras positivas fueron analizadas mediante PCR y digestión enzimática para el análisis polimórfico en la región +3954 (IL-1B C>T). Resultados. Se analizaron 245 muestras 78 casos de infección por H. pylori, 49 fueron hombres (62.8%) y 29 mujeres (37.17%), con edad media de 58.5 años (21-77 años). Las frecuencias genotípicas y alélicas observadas, 45 individuos fueron homocigotos normales (CC), 12 homocigotos raros (TT) y 21 heterocigotos (CT), en el grupo de controles se encontró que 74 individuos eran homocigotos normales (CC), 32 eran homocigotos raros (TT) y 61 fueron heterocigotos (CT). Conclusión. Este estudio muestran una asociación entre el polimorfismo de interleucina IL-1β+3954(C>T) y la predisposición de la población portador del genotipo homocigoto CC infectado con H. pylori desarrolle cáncer.
- Published
- 2020
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40. Níveis Séricos do BDNF na Proteção Cardiovascular e em Resposta ao Exercício
- Author
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Ivani Credidio Trombetta, José Roberto DeMoura, Cleber Rene Alves, Renato Carbonari-Brito, Felipe Xerez Cepeda, and José Ribeiro Lemos Jr
- Subjects
Doenças Cardiovasculares/mortalidade ,BDNF ,Fator Neurotrófico Derivado do Encéfalo ,Endotélio Vascular ,Fatores de Crescimento Neural ,Plasticidade Neuronal ,Polimorfismo ,Exercício Físico ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Resumo As doenças cardiovasculares (DCV) são atualmente a maior causa de morte no Brasil e no mundo. Em 2016 as DCV foram responsáveis por mais de 17 milhões de mortes, representando 31% de todas as mortes em nível global. Mecanismos moleculares e genéticos podem estar envolvidos na proteção cardiovascular e devem ser considerados nas novas abordagens terapêuticas. Nesse sentido, recentes estudos têm relatado que o Fator Neurotrófico Derivado do Encéfalo (Brain-Derived Neurotrophic Factor, BDNF) está reduzido em indivíduos predispostos a desenvolverem DCV, e que o treinamento físico aeróbio aumenta as quantidades de BDNF circulante. O BDNF é uma neurotrofina encontrada em altas concentrações no hipocampo e córtex cerebral, sendo considerada molécula-chave na manutenção da plasticidade sináptica e na sobrevivência das células neuronais. Além da plasticidade neuronal, BDNF também é importante na função vascular, promovendo angiogênese por meio da regulação por espécies reativas de oxigênio (ROS). Entretanto, uma variante do gene do BDNF em humanos, o polimorfismo Val66Met (substituição do aminoácido valina por uma metionina na posição 66 do códon), que ocorre em 20-30% da população caucasiana, pode afetar as concentrações de BDNF no plasma e sua atividade em todos os tecidos periféricos contendo receptores tirosina quinase B (TrkB), como o endotélio. De fato, recentemente observamos que o polimorfismo Val66Met prejudica a reatividade vascular e o BDNF circulante em resposta ao treinamento físico. Dessa forma, apresentaremos a seguir uma discussão sobre os níveis séricos de BDNF na proteção cardiovascular, a variante genética Val66Met na reatividade vascular e o efeito do exercício físico.
- Published
- 2020
- Full Text
- View/download PDF
41. Polymorphism in GRHL2 gene may contribute to noise-induced hearing loss susceptibility: a meta-analysis
- Author
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Xin Li, Zhengping Zhu, Wei Li, Li Wei, Baocheng Zhao, and Zheng Hao
- Subjects
Perda auditiva induzida por ruído ,Grainyhead like 2 ,Epidemiologia molecular ,Polimorfismo ,Metanálise ,Otorhinolaryngology ,RF1-547 - Abstract
Instruction: Noise-induced hearing loss is a leading occupational disease caused by gene-environment interaction. The Grainy Like 2, GRHL2, is a candidate gene. In this regard, many studies have evaluated the association between GRHL2 and noise-induced hearing loss, although the results are ambiguous and conflicting. Objective: The purpose of this study was to identify a precise estimation of the association between rs3735715 polymorphism in GRHL2 gene and susceptibility of noise-induced hearing loss. Methods: A comprehensive search was performed to collect data up to July 8, 2018. Finally, 4 eligible articles were included in this meta-analysis comprising 2410 subjects. The pooled odds ratios with 95% confidence intervals were used to evaluate the strength of the association. Results: Significant association was found in the overall population in the dominant model (GA/AA vs. GG, odds ratio = 0.707, 95% confidence interval = 0.594–0.841) and allele model (G allele vs. A allele, odds ratio = 1.189, 95% confidence interval = 1.062–1.333). When stratified by source of the subjects, we also found association between rs3735715 and noise-induced hearing loss risk in the dominant model (GA/AA vs. GG, odds ratio = 0.634, 95% confidence interval = 0.514–0.783) and allele model (G allele vs. A allele, odds ratio = 1.206, 95% confidence interval = 1.054–1.379). Conclusion: Rs3735715 polymorphism in GRHL2 gene may influence the susceptibility of noise-induced hearing loss. Additional large, well-designed and functional studies are needed to confirm this association in different populations. Resumo: Introdução: Perda auditiva induzida por ruído é uma das principais doenças ocupacionais causadas pela interação gene-ambiente. O Grainy Like 2, ou GRHL2 é um gene que tem sido considerado como candidato. Nesse sentido, muitos estudos avaliaram a associação entre o GRHL2 e perda auditiva induzida por ruído, embora os resultados sejam ambíguos e conflitantes. Objetivo: Identificar uma estimativa precisa da associação entre o polimorfismo rs3735715 no gene GRHL2 e a suscetibilidade à perda auditiva induzida por ruído. Método: Uma pesquisa abrangente foi feita para coletar dados até 8 de julho de 2018. No fim, quatro artigos elegíveis foram incluídos nesta metanálise, abrangeram 2.410 indivíduos. As odds ratios agrupadas com intervalos de confiança de 95% foram usadas para avaliar a força da associação. Resultados: Uma associação significante foi encontrada na população geral no modelo de dominância (GA/AA vs. GG, odds ratio = 0,707, intervalo de confiança 95% = 0,594-0,841) e modelo de alelo (alelo G vs. alelo A; odds ratio = 1,189, intervalo de confiança 95% = 1,062 a 1,333). Quando estratificados pelo local de trabalho dos indivíduos, também encontramos associação entre rs3735715 e risco de perda auditiva induzida por ruído no modelo de dominância (GA/AA vs. GG, odds ratio = 0,634, intervalo de confiança 95% = 0,514 ± 0,783) e modelo de alelo (alelo G vs. alelo A; odds ratio = 1,206, intervalo de confiança 95% = 1,054- 1,379). Conclusão: O polimorfismo Rs3735715 no gene GRHL2 pode influenciar a suscetibilidade à perda auditiva induzida por ruído. Estudos adicionais, amplos, bem desenhados e funcionais são necessários para confirmar essa associação em diferentes populações.
- Published
- 2020
- Full Text
- View/download PDF
42. The fluctuation of APC gene in WNT signaling with adenine deletion of adenomatous polyposis coli, is associated in colorectal cancer
- Author
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Seyedeh Elham Norollahi, Seyed Mohammad Taghi Hamidian, Zeynab Khazaee Kohpar, Rezvan Azadi, Pooya Rostami, Sogand Vahidi, Sahar Ghazanfari, Farnaz Azar Shabe, Roya Khaksar, and Ali Akbar Samadani
- Subjects
Genético ,Câncer colorretal ,Gene da polipose adenomatosa do cólon ,Polimorfismo ,Diseases of the digestive system. Gastroenterology ,RC799-869 - Abstract
Colorectal cancer is one of the most important malignancies in the classification of gastrointestinal cancers. One of the predisposing factors at molecular level for this cancer is via WNT signaling which is associated with the vast numbers of different genes. Thus, in this study, we aimed to investigate whether Adenomatous Polyposis Coli gene (APC) mutation of rs41115in two locations such as 132.002 and 131.989 acts as a trigger or cause of colorectal cancer. Relatively, 30 blood samples of colorectal cancer patients and 30 normal blood samples as control group after colonoscopy and also confirmation of pathology report at Rohani Hospital in Babol (Iran) were investigated. The primers were designed in order to be included the rs41115 to identify the particular polymorphisms of gene. The polymerase chain reaction (PCR direct sequencing method) was used. Conclusively, deletion of adenine in two specific locations such as 131.989 and 132.002 has been identified, but there was no relationship between rs41115 polymorphisms located in adenomatous polyposis coli gene and colorectal cancer. Resumo: O câncer colorretal é uma das neoplasias malignas mais importantes na classificação dos cânceres gastrointestinais. Um dos fatores predisponentes no âmbito molecular para esse câncer é através da via de sinalização WNT, que está associada a um grande número de genes diferentes. Portanto, neste estudo, objetivamos investigar se a mutação rs41115 do gene da polipose adenomatosa do cólon (Adenomatous Polyposis Coli – APC) em dois locais como 132.002 e 131.989 atua como gatilho ou como causa do câncer colorretal. Relativamente, 30 amostras de sangue de pacientes com câncer colorretal e 30 amostras de sangue normal (grupo controle) foram analisadas após a colonoscopia, bem como a confirmação do laudo da patologia no Rohani Hospital em Babol (Irã). Os primers foram projetados de modo a incluir o rs41115 para identificar os polimorfismos particulares do gene. A reação em cadeia da polimerase (método de sequenciamento direto por PCR) foi utilizada. Conclusivamente, a deleção de adenina em dois locais específicos, como 131.989 e 132.002, foi identificada, mas não houve relação entre o polimorfismo rs41115 localizado no gene da polipose adenomatosa do cólon e o câncer colorretal.
- Published
- 2020
- Full Text
- View/download PDF
43. Perfil epidemiológico y presencia de polimorfismos IFR6 (rs2235371), TGFA (rs3771494) en individuos con labio y paladar hendido no sindrómico
- Author
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Víctor Hiram Barajas-Pérez, Graciela Zambrano-Galván, Oscar Eduardo Almeda-Ojeda, Norith de Jesús Recendez-Santillán, and Edgar García Torres
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labio hendido ,fisura del paladar ,polimorfismo ,epidemiologia ,(fuente: decs bireme) ,Dentistry ,RK1-715 - Abstract
Objetivo. Reportar el perfil epidemiológico y presencia de polimorfismos de IFR6 (rs2235371) y TGFA (rs3771494) en individuos con labio y paladar hendido (LPH) no sindrómico. Métodos. Serie de casos, centrado en individuos con hendiduras orofaciales (HO), remitidos a la Facultad de Odontología de Durango, México, para su revisión y valoración dentro del periodo comprendido de enero-2018 a diciembre-2019. Se obtuvo información de interés para el estudio sobre las características del embarazo y antecedentes familiares, de las madres de los individuos. Para el análisis y descripción de los datos se utilizó el paquete estadístico R Studio. Resultados. El total de casos estudiados fue de 24. Se presentó una mayor frecuencia de hombres (67%), la mayoría de los individuos tuvieron el diagnóstico de LPH al nacer (75%), extensión de afección completa (75%), el lado izquierdo afectado (63%), y cirugías correctivas (62%). Solo el 4% estuvo expuesto al tabaquismo materno (activo y pasivo), el 96% tuvo adecuada ingesta de ácido fólico y hierro; el genotipo de riesgo para TGFA (rs3771494) se presentó en el 15% de labio hendido y en el 8% del LPH, y para IFR6 (rs2235371) solo en el 10% del LPH. Conclusiones. La presencia de factores ambientales, genéticos, y el estilo de vida materno mostrado en otras poblaciones, podrían no ser los mismos que intervengan en la aparición y desarrollo de HO no sindromicas de nuestra localidad, además, la presencia de los genotipos homocigotos polimórficos de los genes de interés podría no condicionar el desarrollo de HO.
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- 2022
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44. DIVERSIDAD GENÉTICA DE POBLACIONES DE GUANÁBANA (Annona muricata L.) EN NAYARIT, MÉXICO MEDIANTE MARCADORES SSR Y SRAP.
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LIRA-ORTIZ, Rosalba, CORTÉS-CRUZ, Moisés Alberto, LÓPEZ-GUZMÁN, Graciela Guadalupe, PALOMINO-HERMOSILLO, Yolotzin Apatzingan, SANDOVAL-PADILLA, Isaac, OCHOA-JIMÉNEZ, Verónica Alhelí, SÁNCHEZHERRERA, Leticia Mónica, BALOIS-MORALES, Rosendo, and BERUMEN-VARELA, Guillermo
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GENETIC variation , *GENETIC polymorphisms , *MICROSATELLITE repeats , *PHENOTYPES , *POLYMORPHISM (Zoology) , *HOMOZYGOSITY , *DNA , *ORCHARDS - Abstract
Soursop (Annona muricata L.) is a crop of economic importance for Nayarit, Mexico. Soursop fruits have had an excellent acceptance in the regional market, making it difficult its commercialization to distant places because the production is highly perishable, in addition to the fact that the trees in the soursop orchards are mostly ecotypes or phenotypes without any genetic improvement plan. Due to the lack of commercial varieties and a germplasm bank, it is important to know the genetic diversity to identify and select genotypes; one of the tools for this purpose is the use of molecular markers. The objective of this research was to analyze the genetic diversity of soursop in the main producing areas of Nayarit. Genomic DNA was extracted from soursop leaves from 11 orchards (populations) in the following areas: Compostela (five populations), Tepic (three populations) and San Blas (three populations). Subsequently, we performed molecular analysis using SSR and SRAP molecular markers. The results indicated that the SSRs showed no polymorphism between the populations. On the other hand, we found 116 polymorphic loci in the SRAP markers with an average percentage of polymorphic loci (P) among the producing areas of 29.55 %. Likewise, an AMOVA was performed, showing that the highest percentage of variance is found within the populations. Furthermore, cluster analyzes demonstrated the formation of three independent groups. Therefore, a high homozygosity and low genetic diversity of soursop were obtained between the areas and populations studied. [ABSTRACT FROM AUTHOR]
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- 2022
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45. Níveis de TNF-α e SNP -308 G/A do gene TNF-α em pacientes com disfunção temporomandibular.
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Porto CAMPELLO, Camilla, Santos de LIMA, Elker Lene, Melo FERNANDES, Renata Silva, PORTO, Mirza, and Cartaxo MUNIZ, Maria Tereza
- Abstract
Copyright of Dental Press Journal of Orthodontics is the property of Dental Press International and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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- 2022
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46. Protocolo para la certificación por conformidad genética de clones en jardines de propagación de caucho (Hevea brasiliensis).
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Ruiz Avila, Camilo Andrés, Gomez Vargas, Yolanda, Burgos Paz, William, and Tapiero, Anibal L.
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PLANT clones ,MOLECULAR cloning ,POLYMORPHISM (Zoology) ,RUBBER ,COMMERCIALIZATION ,CAPILLARY electrophoresis ,ELASTOMERS - Abstract
Copyright of Revista Colombiana de Biotecnología is the property of Universidad Nacional de Colombia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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- 2022
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47. Dopamina e comportamento alimentar: polimorfismos em receptores dopaminérgicos e fenótipos relacionados à obesidade
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Gabriela Kaufmann, Fabiane Dresch, Stephanie Cristine Hepp Rehfeld, Julia Pasqualini Genro, and Verônica Contini
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obesidade ,polimorfismo ,comportamento alimentar ,receptores dopaminérgicos ,Medicine - Abstract
Dentre os sistemas neurais responsáveis pela ingestão dos alimentos, destaca-se a via dopaminérgica mesolímbica que, através da liberação de dopamina nos núcleos de accumbens, desperta prazer e motivação para recompensas químicas e naturais. Esta via de recompensa age através dos receptores dopaminérgicos transmembranares, que variam de DRD1 a DRD5. Desta forma, considerando os efeitos prazerosos despertados pela ingestão alimentar, é plausível que variações genéticas em genes do sistema dopaminérgico possam ter um papel na arquitetura genética da obesidade. Este estudo tem como objetivo realizar uma revisão narrativa da literatura sobre a influência de variantes genéticas nos receptores dopaminérgicos em fenótipos relacionados com a obesidade. Em conjunto, os principais achados desta revisão indicaram que os genes codificadores dos receptores DRD2 e DRD4 possam ser os mais relevantes no contexto da obesidade e fenótipos relacionados. No entanto, a obesidade é uma doença complexa e multifatorial e novos estudos são ainda necessários para uma melhor compreensão do impacto da dopamina nos desfechos relacionado à obesidade. É importante também destacar que esses efeitos podem ser específicos para subgrupos de pacientes e que outros fatores, além das variantes genéticas, devem ser considerados.
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- 2021
48. CARACTERIZAÇÃO MORFOLÓGICA E MOLECULAR DE BIÓTIPOS DE Conyza spp.
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Maria Helena Faustinoni Bruno, Fernanda Machado Castanho, Laís de Araújo, and Sandremir de Carvalho
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AFLP ,Buva ,Diversidade ,Genética ,Polimorfismo ,Forestry ,SD1-669.5 ,Agriculture (General) ,S1-972 ,Plant culture ,SB1-1110 - Abstract
As plantas daninhas são causa do encarecimento das lavouras, entre elas está Conyza spp, conhecida como buva. Marcadores moleculares vem sendo utilizados para complementar sua caracterização. A técnica AFLP (Amplified Fragment Length Polymorphism) é adaptada para diversas análises genéticas, fornecendo alta cobertura do genoma. Com objetivo de caracterizar molecularmente morfotipos de buva, foram coletadas 60 plantas da UENP – Bandeirantes/PR. A análise molecular com AFLP seguiu etapas de digestão, ligação de adaptadores, amplificação pré-seletiva e seletiva, utilizando combinação de seis pares de primers AFLP. Os fragmentos foram separados em gel de poliacrilamida 8% e corados com AgNo3. Dos 218 loci, 97 foram polimórficos sendo 53 específicos para um morfotipo e 44 para o outro. A matriz de distância genética, a porcentagem de locos polimórficos, diversidade gênica de Nei (1978), e a distância genética foram obtidas utilizando o programa TFPGA (Tools For Population Genetcs Analyses). Os resultados da AMOVA mostram que a variação entre as populações é de 85,18% e dentro das populações é de 14,82% indicando que os morfotipos sejam espécies diferentes. Através das análises moleculares e principais características morfológicas demonstrou se que os morfotipos são espécies distintas, o morfotipo A é Conyza sumatrensis e o morfotipo B Conyza bonariensis.
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- 2021
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49. MARCADORES MOLECULARES E DESCRITORES MORFO-AGRONÔMICOS NA AVALIAÇÃO DA DIVERSIDADE GENÉTICA DE BUCHA (LUFFA CYLINDRICA)
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Ariel Dotto Blind, Fabiola Viana Almeida Almeida, Magno Savio Ferreira Valente, Pedro de Queiroz Costa Neto, Maria Teresa Gomes Lopes, and Danilo Fernandes Silva Filho
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análise multivariada ,estrutura genética ,polimorfismo ,recursos genéticos ,Agriculture ,Agriculture (General) ,S1-972 - Abstract
O estudo da diversidade de Luffa cylindrica pode permitir triagens especificas para diferentes aplicações, visando uso e o melhoramento da espécie. Dados moleculares e de trinta descritores morfo-agronômicos foram utilizados em análises multivariadas na caracterização de 24 acessos de bucha provenientes de sete Estados brasileiros. Os resultados obtidos demonstraram que os acessos em estudo possuem ampla variabilidade potencial para todos os caracteres morfo-agronômicos analisados. Os caracteres que mais contribuíram para a divergência entre os acessos foram o comprimento dos frutos (62,32%) e a circunferência apical dos frutos (19,70%). Marcadores AFLP foram eficientes em agrupar os acessos de bucha provenientes de diferentes regiões brasileiras e apresentaram 66,8% de polimorfismo. O agrupamento obtido a partir da análise conjunta dos dados moleculares e morfo-agronômicos separou os acessos em quatro grupos e foi concordante com a análise bayesiana de agrupamento na separação dos acessos coletados no norte com aqueles prospectados nas demais regiões brasileiras.
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- 2020
50. Somatotipo y polimorfismo del gen ACTN3 y ECA en jugadores de tenis de mesa chilenos (Somatotype and polymorphism of the ACTN3 and ACE gene in Chilean table tennis players)
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Rodrigo Moraga Muñoz, Alexis Caniuqueo Vargas, Matías Monsalves-Alvarez, Mauricio Cresp Barría, Claudio Hernández Mosqueira, Paula Roquetti Fernandes, and Jose Fernandes Filho
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Somatotipo ,Polimorfismo ,ACTN3 ,ECA ,Tenis de mesa. ,(Somatotype, Polymorphism, ACTN3, ACE) ,Sports ,GV557-1198.995 - Abstract
Introducción. El estudio de variables antropométricas y genéticas son fundamentales como determinantes del rendimiento deportivo. Objetivo. El objetivo del estudio fue determinar el somatotipo y la frecuencia de genotipo y alelo de 𝜶-actinina 3 (ACTN3) R577X y enzima convertidora de angiotensina (ECA) I/D polimorfismo de jugadores de tenis de mesa chilenos. Método. Se estudiaron 24 tenimesistas varones (edad 22,1 ± 5,4) del ranking nacional de Chile. La obtención de ACTN3 y ECA se recogió por muestra la saliva y se analizaron mediante reacción cadena de la polimerasa convencional. La estructura corporal se caracterizó a través del método del somatotipo propuesto por Carter. A partir de estadísticas descriptiva, se analizaron los valores medios de somatotipo, frecuencia de clasificación y ubicación de somato carta, además, de valores de frecuencia de genotipo y alelo de ACTN3 R/X y ECA I/D polimorfismo de acuerdo con número de aparición y porcentaje.Resultados. Se evidenció un predominio de clasificación mesoendomórfica y endomesomórfica, una mayor frecuencia fenotípica XX con predominio de alelo X para el gen ACTN3 y mayor frecuencia DI con predominio de alelo D para ECA. Conclusión. El somatotipo de tenimesistas chilenos tiene una orientación hacia mesoendomorfía y un predominio XX y alelo X del gen ACTN3 y, predominio del genotipo DI y alelo D del gen ECA, estas características podrían ofrecer una ventaja genética en cuanto a niveles de fuerza y potencia muscular, posiblemente facilitando la práctica y el éxito competitivo en estos tenimesistas chilenos. Abstract. Introduction. The study of anthropometric and genetic variables are essential as determinants of sports performance. Objective. The objective of the study was to determine the somatotype and the frequency of genotype and allele of 𝜶-actinin 3 (ACTN3) R577X and angiotensin converting enzyme (RCT) I / D polymorphism of Chilean table tennis players. Method. 24 male table tennis players (age 22.1 x 5.4) of Chile's national rankings were studied. Obtaining ACTN3 and ACE was collected by sample of saliva and analyzed by polymerase chain in real time. The body structure was characterized through the somatotype method proposed by Carter. From descriptive statistics, the mean values of somatotype, frequency of classification and location of somato letter were analyzed, in addition, of genotype frequency values and allele of ACTN3 R/X and ECA I/D polymorphism according to number of occurrence and percentage. Results. It demonstrated a predominance of mesoendomorphy and endomorphy classification, a higher phenotypic frequency XX with predominance of allele X for the ACTN3 gene and higher frequency of DI allele with predomina D for ACE. Conclusion. The somatotype of Chilean tenimestists has an orientation towards mesoendomorphy and a predominance of the genotype XX and allele X of the ACTN3 gene and, predominance of the DI genotype and allele D of the ACE gene, these characteristics could offer a genetic advantage in terms of strength levels and muscle potency, possibly facilitating practice and competitive success in these Chilean tenimists.
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- 2021
- Full Text
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