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Objective: Hard clustering approaches may cause some of the relationships to be overlooked due to their nature of algorithms especially in genetic datasets. But hidden relationships can be revealed by fuzzy approaches. Purpose of this study was evaluating effect of microRNAs (miRNA) on children with acute lymphoblastic leukaemia (ALL) by using miRNA expression data obtained from bone marrow samples with sets containing different numbers of elements of fuzzy Cmeans (FCM). Material and Methods: miRNA expression levels of 43 newly diagnosed ALL patients and 14 healthy subjects were analysed via FCM. Clusters containing different numbers of miRNAs were evaluated, common properties in messenger RNA (mRNA) pathways were investigated and new pathways associated with ALL and cancer were described via miRNA target prediction tools. Results: Significant miRNA profile was compared to control cases. Only 46 out of 108 miRNAs were found to be significantly upregulated or downregulated. Of forty six miRNAs: 8 miRNAs were labelled as tumour suppressor (17.4%), 17 miRNAs were labelled as onco-miR (37.0%) and 21 miRNAs could not be labelled (45.6%) for hematological malignancy. Fourteen (%30.4) miRNAs were found to be apoptosis-related, 27 miRNAs were in leukemia-related (58.7%) and 15 labelled miRNAs were related with cancer pathways (32.6%). hsa-miR-181b, hsa-miR- 146a, hsa-miR-155, hsa-miR-181c-5p, hsa-miR-7-1-3p, hsa-miR-708- 5p onco-miRs constituted a set. These miRNAs targeted 801 common mRNAs (p

Background/aim: In tuberculsosis (TB), miRNA has been used as a biomarker to distinguish between healthy individuals and TB patients. The aim of this study was to investigate (i) the association of the miRNA and cytokine expression levels, the course of tuberculosis infection, clinical forms and response to treatment, and (ii) the effects of genotypic features of bacteria on the course of tuberculosis and the relationship between miRNA and cytokine expressions and bacterial genotypes. Materials and methods: A total of 200 cases (100: culture positive active tuberculosis, 50: quantiferon positive latent tuberculosis infection and 50: quantiferon negative healthy controls) were included in the study. For the tuberculosis group at the time of admission and after treatment, for the latent tuberculosis infection and healthy control groups at the time of admission, miRNA and cytokine expressions were determined. Genotyping of M.tuberculosis isolates was performed by spoligotyping method. Results: While, in the comparison of miRNA expressions between the pretreatment patient group and the healthy control group, there was a statistically significant decrease in the expression of miR-454-3p, miR-15a-5p, miR-590-5p, miR-381, and miR-449a in the Pulmonary TB group, there was no significant change in miRNA expression in extrapulmonary TB patients. When the cytokine expressions of the patient group and the healthy control group were compared before treatment, the expressions of all cytokines in the patient group decreased. However, the only cytokine that showed a significantly lower expression was IL12A in PTB patients. Conclusion: There is no significant relationship between the clinical course of the disease, cytokine and miRNA expression, and the genotype of the bacteria., Scientific and Technological Research Council of Turkey (TUBITAK) [115S333], This study was supported by grant 115S333 by the Scientific and Technological Research Council of Turkey (TUBITAK) .

The variation in the caries susceptibility while environmental factors are similar indicates that the effect of individual factors such as genetics on caries process and tooth development should be revealed. The aim of this study was to evaluate the association between genetic polymorphisms in MMP13 (rs2252070) and MMP20 (rs1784418) with caries experience.A cross-sectional study was conducted on 200 subjects aged 6 to 14 years. Demographic data, data on oral health habits were obtained through the statements of guardian of the individuals, caries data was collected by clinical examination. Unstimulated whole saliva was collected to extract the genomic DNA. Genotyping of the selected polymorphisms was carried out by real-time PCR. Allele and genotype frequencies were compared between different subgroups considering caries experience. Data were analyzed using SPSS 16.0 by chi-square test and logistic regression analysis.Allele distribution of MMP13 was different between caries-affected and caries-free subjects. MMP13 A allele increased the caries risk (p=0.005, OR=1.84, 95% CI 1.20-2.82). Allele and genotype distribution of the polymorphism in MMP20 were not associated with caries experience (p0.05).It is concluded that the genetic variation in MMP13 was associated with the caries experience in selected subjects in Turkey.The knowledge regarding association between the MMP genes and caries experience, might benefit the clinical practice, improving caries-preventive and caries-therapeutic approaches.

Aromatase deficiency rarely causes a 46,XX sexual differentiation disorder. The CYP19A1 gene encodes the aromatase enzyme which catalyses the conversion of androgens to oestrogens. In cases with 46,XX karyotype, mutations in the CYP19A1 gene can lead to disorders of sex development. Clinical findings in aromatase deficiency vary depending on the degree of deficiency. The effect of increased androgens, including acne, cliteromegaly and hirsutism, can be observed in mothers with placental aromatase deficiency. A decrease in maternal virilisation symptoms is observable in the postpartum period. It is rarely reported that there is no virilization in pregnancy. In this study, two 46,XX sibling having the p.R115X (c.343 C>T) novel pathogenic variant in the CYP19A1 gene and raised as different genders, with no maternal virilisation during pregnancy, are presented. In conclusion, 46,XX virilised females should be examined in terms of aromatase deficiency once congenital adrenal hyperplasia has been excluded, even if there is no history of maternal virilisation during pregnancy.

The aim of this study was to determine the distribution of ACTN3 R577X gene polymorphism in soccer players and sedentary individuals, and to investigate the relationship of this distribution with performance tests. A total of 100 soccer players and 101 sedentary individuals were enrolled in the study. Standing long jump and countermovement jump (with arm swing, without arm swing and repeated) scores were recorded, using a jump meter. Maximum VO2 levels were measured using a treadmill-connected cardiopulmonary exercise device, Masterscreen CPX. ACTN3 R577X polymorphism was evaluated by real-time PCR. ACTN3 R577X genotype distribution was found to be similar in soccer players and controls (p>0.05). The only statistically significant finding was a shorter countermovement jump with arm swing scores in the RR-genotyped soccer players, compared with their RX genotyped counterparts (p

WOS: 000441766000024, PubMed ID: 30119594, Background/aim: Geographical distribution, ethnicity, and other socioeconomic factors may affect anthropometric measurements, and for that reason each society should determine their own measurements accounting for those factors. In this study, we aimed to determine the anthropometric measurements of healthy late preterm and term infants to compare the results with other national and international studies. Materials and methods: This sectional study was carried out among 1197 infants born with a gestational age of 35 weeks. Chest circumference, ear length, foot length, palmar length, middle finger length, philtrum distance, inner and outer canthal distances, and palpebral fissure length were measured in the first 24 h of life. Results: All measurements of late preterm infants were smaller than those of term infants (P < 0.05). Compared with male infants, the chest circumference, ear length, foot length, pahnar length, philtrum distance, and inner canthal distances of the female infants were lower (P < 0.05). No significant differences were found between male and female infants' middle finger length, outer canthal distance, and palpebral fissure length measurements. Percentile values for all measurements of 35-42-week male and female infants were described. Condusion: These measurements of male and female infants born between 35 and 42 weeks may be useful for early detection of syndromes by detecting anatomical abnormalities in our population.

Background: Down syndrome, which is the most common human chromosomal anomaly that can affect people of any race and age, can be diagnosed prenatally in most cases. Prenatal diagnosis via culture method is time-consuming; thus, genetic analysis has thus been introduced and is continually being developed for rapid prenatal diagnosis. For this reason, the effective use of microRNA profiling for the rapid analysis of prenatal amniotic fluid samples for the diagnosis of Down syndrome was investigated. Aims: To evaluate the expression levels of 14 microRNAs encoded by chromosome 21 in amniotic fluid samples and their utility for prenatal diagnosis of Down syndrome. Study Design: Case-control study. Methods: We performed invasive prenatal testing for 56 pregnant women; 23 carried fetuses with Down syndrome, and 33 carried fetuses with a normal karyotype. Advanced maternal age and increased risk for Down syndrome in the screening tests were indications for invasive prenatal testing. The age of gestation in the study and control groups ranged between 17 and 18 weeks. The expression levels of microRNA were measured by real-time polymerase chain reaction. Results: The expression levels of microRNA-125b-2, microRNA-155, and microRNA-3156 were significantly higher in the study group than in the control group. Conclusion: The presence of significantly dysregulated microRNAs may be associated with either the phenotype or the result of abnormal development. Further large-scale comparative studies conducted in a variety of conditions may bring novel insights in the field of abnormal prenatal conditions.

CHARGE sendromu kolobom, kalp defekti, koanal atrezi, büyüme ve gelişme geriliği, genital hipoplazi, kulak anomalisi veya sağırlık gibi anomalilerin eşlik ettiği bir send- romdur. Konjenital kalp defektleri %75-80 oranında görülmektedir ve en sık görülen Fallot Tetralojisidir. Prenatal dönemde kardiyopati saptanarak hastanemize refere edilen ve postnatal dönemde Fallot Tetralojisine eşlik eden bilateral koroid ve iris kolobomu, sol mikroftalmi, kulak anomalisi, mikropenis, inmemiş testis, sağ renal agenezi, sol vezikoüretral reflü bulgularıyla CHARGE sendromu tanısı alan 15 gün- lük yenidoğan bir olgu sunulmuştur., CHARGE syndrome is a syndrome with coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia. Congenital heart defects occur in 75-80% of patients. Tetralogy of Fallot is the commonest heart defect. We report a 15 day old newborn antenatally diagnosed and referred to our hospital for cardiopathy but postnatally presented with bilateral iris and choroid coloboma, left microphthalmos, micropenis, cryptorchidism, right renal agenesis, left vesicoureteral reflux and tetralogy of Fallot and diagnosed as CHARGE syndrome.

WOS: 000175879900017, PubMed ID: 11737720

ÖzetGenetik hastalıklar, canlıların genomik materyallerinde oluşan anormallikler nedeniyle meydana gelen hastalıklardır. Kuşaktan kuşağa aktarılabileceği gibi, sadece ortaya çıktığı bireyle de sınırlı kalabilir. Her insan belli bir genetik hastalık riski taşımakla birlikte bazı ailelerde bu risk daha fazla olarak gözlenmektedir. Günümüzde genetik biliminde sağlanan gelişmelere paralel olarak bu alana talep, hem toplumsal hem de tıp alanında gittikçe artış göstermektedir. Bu durum genetik danışmanlık olarak adlandırılan, bireylerin kendilerinde, ailelerinde, ileride doğacak çocuklarında mevcut veya ortaya çıkabilecek genetik hastalıklar hakkında her türlü bilgi verme işlemini çok önemli hale getirmektedir. Genetik danışmanlık, genetik hastalıkların tanınması ortaya çıkabilecek tedavi yöntemlerinin uygulanması, aile planlaması gibi durumlarda önemli bir yere sahiptir. Ülkemizde üniversite hastaneleri, devlet hastaneleri ve bazı özel merkezler dahilinde genetik tanı merkezleri bulunmaktadır. Genetik danışmanlık hizmeti almak üzere merkezlere başvuran bireyler, bu bireyleri yönlendiren doktorlar ve diğer sağlık hizmeti görevlileri gün geçtikçe genetik ve genetik danışmanlık sürecinin önemini anlamakta ve daha çok kişinin bu hizmeti almasını sağlamaktadırlar. Bu derlemede genetik danışmanlık konusu, ülkemiz ve dünyadaki durumu güncel literatür bilgileri ışığında sunulmaktadır.Anahtar sözcükler: Genetik danışmanlık, genetik servisler, genetik test AbstractGenetic diseases occur due to abnormalities consisting in the genomic material of the living beings. It may transmit from one generation to the other but it may also be limited only in the affected individual. Everyone carries a risk for a particular genetic disease but a greater risk is observed in some families. Today, in parallel with the development in genetics, an increasing demand from the public and medical field is present. This situation brings importance of informing individuals, their families and their children of their present or future genetic conditions, a process called genetic counseling. Although there is no treatment for most of the genetic diseases, genetic counseling has an important role in conditions such as family planning, diagnosis of genetic diseases and possible novel treatment protocols. In our country, there are genetic centers based in the university hospitals, state hospitals and private medical centers. The importance of genetics and genetic counseling is gradually being understood by the people who have been referred for genetic counseling, and by the physicians and other health care workers who refer those providers to the genetic centers. They ensure more individuals receive this service as well. In this review, genetic counseling, its status in our country and in the world is presented widely with up-to-date literature.Keywords: Genetic counseling, genetic services, genetic testing, Genetic diseases occur due to abnormalies consisting in the genomic material of the living beings. It may transmit from one generation to the other but it may also be limited only in the affected individual. Everyone carries a risk for a particular genetic disease but a greater risk is observed in some families. Today, in parallel with the development in genetics, an increasing demand from the public and medical field is present. This situation brings importance to inform individuals, their families and their children of their present or future genetic conditions, a process called genetic counseling. There is no treatment for most of the genetic diseases, however it is important to follow the possible novel traetment protocols and diagnosis of the diseases is possible with genetic counseling. In our country, there are genetic centers based in the university and private hospitals. People that refer for genetic counseling, physicans and other health care workers that refer those people to those centers understand the importance of genetics and genetic counseling and they ensure more and more individuals to receive this service. In this review, genetic counseling, its status in our country and in the world is presented widely with up to date literature.

Mental retardasyon toplumun yaklaşık olarak %3’ünü etkiler. Olguların yaklaşık olarak 1/3’ünde tanı konulabilmektedir. Orta-ağır mental retarde olguların % 40’ında ve hafif mental retarde olguların %70’inde bu duruma yol açan neden bilinmemektedir. Standart kromozom incelemesi ile 3 Mb’dan daha büyük DNA kayıpları, kazanımları veya yer değişiklikleri tespit edilebilmektedir. Floresan in situ hibridizasyon (FISH) yöntemiyle DNA probları kullanarak 2-3 Mb’dan daha küçük kromozom anomalileri tespit edilebilir. Subtelomerik bölge kromozomları n telomer adı verilen uç kısımlarının hemen altında yer alan bölümdür. FISH ile yapılan incelemelerde idiopatik mental retarde olguların önemli bir kısmından (%2.2-%23) subtelomerik bölge anomalilerinin sorumlu olabileceği bildirilmiştir. Bu makalede mental retardasyon nedenleri ve nedeni bilinmeyen mental retarde olgularda kromozomların subtelomerik bölgesiyle ilgili yapılan çalışmalar tartışılmıştır., Mental retardation affects about 3% of the population. Final diagnosis could be reached in approximately one third of all cases, and no diagnosis is available in the rest of the patients, which is followed by repeated laboratory tests and a long time exhausting both parents and the patients. Recent studies have established that chromosomal abnormalities comprise 30-40% of moderate to severe mental retardation; and nearly 30% of mild mental retardation. Standard cytogenetic analysis is capable of detecting DNA rearrangements of larger than 3 Mb. Subtelomeric region is the part of the chromosome just before the telomere which is the end structures of the chromosomes. Fluorescent in situ hybridisation (FISH) is a molecular cytogenetic technique in which deletions or rearrangements smaller than 2-3 Mb could be detectable. Subtelomeric region accounts for a significant proportion (2.2%-23%) of cases with undiagnosed mental retardation because of high concentration of genes in this region. In this article we aimed to discuss the reasons of mental retardation and the studies performed in mentally retarded cases related to the subtelomeric regions of the chromosomes.

Amniosentez ve fetal karyotipleme, prenatal tanı amacıyla pek çok ülkede uygulanan bir yöntemdir. Bu yöntemler ile fetusun kromozom yapısı hakkında aile ve doktorun doğum gerçekleşmeden önce bilgi sahibi olması amaçlanmaktadır. Son yıllarda geliştirilmiş moleküler sitogenetik yöntem olan flüoresan in-situ hibridizasyon (FISH) amnion sıvısındaki interfaz hücrelerine uygulanması ile sonuç alma süresi çok kısalmıştır. Materyal-Metod: Bu çalışmada 20 ile 46 yaş ve 15 ile 32 gebelik haftası arasında olan otuz olgunun amniosentez sıvıları, klasik sitogenetik yöntem ve FISH yöntemi ile incelendi. Bulgular: Amniosentez endikasyonları; 16 olguda ileri anne yaşı, 6 olguda üçlü tarama testinde risk artışı, 3 olguda anormal ultrason bulgusu ve birer olguda ileri anne yaşı ve anormal ultrason birlikteliği, ileri anne yaşı ve üçlü testte risk artışı birlikteliği, maternal Down sendromu, koriyonik villus biyopsisinde trizomi 21 saptanması ve anksiyete idi. Olguların klasik sitogenetik yöntem ile incelenmesi sonucunda 16 olguda 46, XY; 11 olguda 46, XX; 3 olguda trizomi 21 saptandı. Bütün olgulara aynı anda 13, 18, 21, X ve Y probları ile FISH incelemesi yapıldı ve 24 saat içinde sonuçlar elde edildi. Uyguladığımız FISH yöntemi sonuçları klasik sitogenetik yöntem doğrulandı., Introduction: Numerical and/or structural chromosomal abnormalities in the fetus can be detected by prenatal diagnostic methods. Fetal karyotyping is one of the prenatal diagnostic methods which is usually performed after the 14th week of gestation. More than 99 % of all chromosomal abnormalities comprise the aneuploidies of five chromosomes. These five chromosomes are number 13, 18, 21, X and Y. Recently the development of Fluorescent in situ Hybridization (FISH) for the analysis of chromosome aneuploidies in interphase cells has provided rapid results and the duration of informing the familtes has been shortened. Materials and Methods: In this study, amniotic fluid sampling (AFS) of 30 pregnants, ageing between 20 and 46 year-old and studied by both classical cytogenetic technique and FISH. Results: The gestational period for the sampling process of these women is between the 14th and 32th week of pregnancy. The indications of cytogenetic study in AFS were advanced maternal age (AMA) in 16 cases, triple test result pointing to increased risk in 6 cases, abnormal ultrasound findings in 3 cases, AMA with triple test result in 1 case, AMÂ with abnormal ultrasound findings in 1 case, Down syndrome in the mother in 1 case, trisomy21 in chorionic v'Ulus sampling in 1 case. Normal signalling in 27 cases and trisomy 21 in 3 cases were obtained by FISH. All results were obtained within 24 hours by FISH method and analysed by using classical cytogenetic method. Conclusion: In conclusion it is considered that FISH method can be used forgetting rapid result besides clasical cytogenetic method in the screening of,the. most common aneuploidies.

Fetusteki kromozomal polimorfizmlerin doğru yorumlanması prenatal tanıda esastır. Satellitli Y kromozomu (Yqs), insan karyotipinde oldukça nadir yapısal varyasyonlardan biri olarak kabul edilmektedir. Genellikle Yqs kromozomu, akrosentrik otozomal kromozomun (15 veya 22) kısa kolundaki NOR taşıyan bölgenin Y kromozomunun uzun koluna translokasyonu ile oluşmaktadır ve satellit görünümüne neden olur. Bu yapı, ribozomal RNA'yı kodlayan DNA genlerinden transkribe edilen aktif nükleolar organizer bölge (NOR) içerir. Bu translokasyonların görünür, zararlı hiçbir etkisi bulunmamaktadır ve sitogenetik olarak tanımlanabilirler.Ege Üniversitesi Genetik Hastalıkları Araştırma Uygulama Merkezi'ne başvuran iki hamile bayanın fetal karyotipleri 46,XYqs olarak saptanmıştır. Fetal sitogenetik çalışma endikasyonlan ilk olguda ileri maternal yaş, ikinci olguda ise üçlü testte risk artışıdır. Her iki olguda da baba satellitli Y kromozomu (Yqs) taşımaktadır. NOR bantlamada her iki olgu da pozitif olarak bulunmuştur.Daha önce yayınlanmış benzer olgular ve her iki olgudaki paternal kalıtım göz önünde bulundurularak, Yqs' nin bir polimorfizm olduğu ve fetusta herhangi bir anormalliğe neden olmadığı düşünülmüştür. Bebekler beklenildiği gibi, normal olarak doğmuşlardır. Yqs olgularında genetik danışmanın önemi ele alınmıştır., Accurate interpretation of chromosomal polymorphisms from in the fetus is essential in prenatal diagnosis. Satellited Y chromosome (Yqs) is one öf the very rare structural variations in the human karyotype. It is generally accepted that the Yqs chromosome is the product of a translocation of parts of the NOR- bearing short arm of an acrocentric autosome (15 or 22) to the long arm of the Y chromosome causing its satellited appearance. This structure made of active nucleolar organizer region (NOR), which is transcripted to the ribosomal RNA genes. These translocations have no apparent deleterious effects and can be revealed cytogenetically.Fetal karyotypes showed 46, XYqs in two pregnant women who were referred to Ege University Genetic Disease Research and Application Center. The indications for fetal cytogenetic study were advanced maternal age in the first case and increased risk in triple test in the second case.In both cases fathers showed a satellited Y chromosome (Yqs) in their karyotypes. The NOR staining was positive for each case. Regarding the similar cases reported before and paternal inheritance in both cases, it was considered that the Yqs is a polymorphism and does not cause any abnormality m the fetus. The babies were, normal at birth as expected. The significance of the genetic counseling in cases with Yqs was discussed.