4 results on '"Rodríguez, M. Luis"'
Search Results
2. Genetic, clinical and molecular analysis of a family affected by amelogenesis imperfecta
- Author
-
Urzúa O, Blanca, Ortega P, Ana, Rodríguez M, Luis, and Morales B, Irene
- Subjects
stomatognathic diseases ,stomatognathic system ,Dental enamel hypoplasia ,Amelogenesis imperfecta ,Mutation - Abstract
Amelogenesis Imperfecta (AI) is a group of conditions where there is an abnormal formation of enamel in terms of quantity, structure and composition. AI is clinically and genetically heterogeneous, there are sex linked and autosomal versions, dominant and/or recessive, with phenotypes of hypoplastic, hypocalcified or hypomature enamel. Only recently, through clinical, genetic and molecular studies of affected families, phenotypic-genotypic correlations are being established in this group of anomalies. Aim: To carry out a genetic, clinical and molecular analysis of a Chilean family affected with an enamel malformation, which probably would correspond to Amelogenesis Imperfecta Dominant Autosomal (AIDA), of hypoplastic type, resulting from g.6395G>A mutation in the enamelin gene. Patients and Methods: A genealogical pattern was created for five generations. Five members of this family group were clinically examined, and four of them had a molecular analysis that consisted of the detection of a mutation in the enamelin gene using PCR. Results: In this family, the enamel malformation presents a dominant autosomal pattern of inheritance. The clinical examination of the group allowed a diagnosis of Amelogenesis Imperfecta, of the hypoplastic local type. However, the molecular analysis revealed that the members analyzed did not exhibit the g.6395G>A mutation reported for the enamelin gene (ENAM). Conclusions: The enamel phenotype in this family could be explained by the presence of one of four other mutations recently described in this or another gene, thereby supporting the findings of allelic heterogeneity reported in the literature
- Published
- 2005
3. Evaluación y selección preliminar por rendimiento de tubérculo y potencial industrial de 36 clones de papa (solanum tuberosum l.)
- Author
-
Perilla C., Alexánder, Cifuentes O., Néstor, Rodríguez M., Luis E., and Ñustez L., Carlos E.
- Subjects
fritura ,fry ,augmented designs ,diseño incrementado ,subespecie tuberosum ,specific gravity ,gravedad específica - Abstract
Se evaluaron 36 clones de papa por calidad para la industria, rendimiento, respuesta a gota y precocidad, utilizando como testigos las variedades cultivadas para procesamiento industrial, Diacol Capiro, Diacol Monserrate e lCA Unica. Las variables evaluadas fueron porcentaje de tiras y hojuelas no quemadas, gravedad específica, rendimiento procesable, peso tamaño 2, área bajo la curva de la severidad de gota y días después de la siembra a maduración. El experimento se realizó en la Estación Experimental San Jorge, municipio de Soacha (Cundinamarca), se analizó bajo una metodología estadística propuesta en el Programa de Fitomejoramiento dePapa de la Universidad Nacional, que utiliza la suma de rangos en el análisis de diseños incrementados bajo bloquescompletos al azar para seleccionar clones por varias variables y no por una como el análisis tradicional. Se seleccionaron 19 clones, de los cuales 7 son superiores para el conjunto de las variables: los clones 6.5 y 12.59 recomendables para procesamiento en forma de tiras; 2.14,6.8, 11.35, 12.62 y 12.71 para hojuelas. Entre los 7 clones se destacan el 6.8 y 2.14 por presentar menor susceptibilidad a gota y, el clon 6.5 por tener menor tiempo a maduración de tubérculo (15 días menos que Capiro). 36 clones ofpotato were evaluated for industrial quality, yield, late blight response and early ripen, using the varieties grew for industrial processing, Diacol Capiro, Diacol Monserrate and lCA Unica. Data consisted of the percentage of french fries and chips than did not burn, specific gravity, useful yield, weight of second tubers, area under the curve for the severity of late blight and days to ripen. The experiment was carried out at San Jorge Experiment Station, at Soacha municipality (Cundinamarca - Colombia), it was analyzed under a new statistic methodology proposed in the Breeding Program ofthe Universidad Nacional of Colombia that uses ranks sum on the augmented designs analysis in randomized bloc s, in order to choose the clones for several variables and not for one as the traditional analysis. With the macro in the analysis procedure, were found 19 clones, 7 are superior in the group of the evaluated variables: the clones 6.5 and 12.59 are recommended for processing in french fries, 2.14, 6.8, 11.35, 12.62 y 12.71 for chips. Between 7 clones mentioned stand out 6.8 and 2.14 for present an less susceptibility to late blight and, the clon 6.5 for having less time in the ripen of tuber (15 days less than Capiro).
- Published
- 2002
4. [Genetic, clinical and molecular analysis of a family affected by amelogenesis imperfecta].
- Author
-
Urzúa O B, Ortega P A, Rodríguez M L, and Morales B I
- Subjects
- Adult, Aged, Case-Control Studies, Dental Enamel Hypoplasia diagnostic imaging, Electrophoresis, Polyacrylamide Gel, Female, Genes, Dominant, Humans, Male, Pedigree, Phenotype, Polymerase Chain Reaction, Radiography, Dental Enamel Hypoplasia genetics, Dental Enamel Proteins genetics, Mutation genetics
- Abstract
Background: Amelogenesis Imperfecta (AI) is a group of conditions where there is an abnormal formation of enamel in terms of quantity, structure and composition. AI is clinically and genetically heterogeneous, there are sex linked and autosomal versions, dominant and/or recessive, with phenotypes of hypoplastic, hypocalcified or hypomature enamel. Only recently, through clinical, genetic and molecular studies of affected families, phenotypic-genotypic correlations are being established in this group of anomalies., Aim: To carry out a genetic, clinical and molecular analysis of a Chilean family affected with an enamel malformation, which probably would correspond to Amelogenesis Imperfecta Dominant Autosomal (AIDA), of hypoplastic type, resulting from g.6395G>A mutation in the enamelin gene., Patients and Methods: A genealogical pattern was created for five generations. Five members of this family group were clinically examined, and four of them had a molecular analysis that consisted of the detection of a mutation in the enamelin gene using PCR., Results: In this family, the enamel malformation presents a dominant autosomal pattern of inheritance. The clinical examination of the group allowed a diagnosis of Amelogenesis Imperfecta, of the hypoplastic local type. However, the molecular analysis revealed that the members analyzed did not exhibit the g.6395G>A mutation reported for the enamelin gene (ENAM)., Conclusions: The enamel phenotype in this family could be explained by the presence of one of four other mutations recently described in this or another gene, thereby supporting the findings of allelic heterogeneity reported in the literature.
- Published
- 2005
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.