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http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2962| Título : | XV-2c/km-19 Haplotype analysis of cystic fibrosis mutations in mexican patients |
| Creador: | Orozco, Lorena |
| Nivel de acceso: | Open access |
| Palabras clave : | Fibrosis Quística - genetica - Haplotipos México Mutación Linaje Polimorfismo genético Cystic Fibrosis - genetics Haplotypes Mexico Mutation Pedigree Polymorphism, Genetic Fibrosis quística RFLPs XV-2c - KM-19 haplotipos Pacientes Mexicanos cystic fibrosis RFLPs XV-2c - KM-19 haplotypes Mexican patients |
| Descripción : | We analyzed 97 unrelated Mexican cystic fibrosis (CF) patients and their first-degree relatives to study the association of XV2C/ TaqI/KM19/PstI haplotypes with CF mutations in this population. Haplotype phases could be established in 148 CF and 110 normal chromosomes, and haplotype distributions of normal and CF chromosomes differed significantly (P< 0.001). ΔF508 and G542X mutations accounted for 56% of CF chromosomes and were found to be associated with haplotype B in 97.2% and 72.7% of chromosomes, respectively. The haplotype distribution of CF chromosomes carrying other rare and unknown mutations was similar to that of normal chromosomes (P > 0.05), haplotypes A and C being the most frequent. This is in accordance with the extensive heterogeneity and the spectrum of mutations reported in Mexican CF patients. We also report the haplotype distribution of all informative chromosomes bearing rare mutations; some were found to be associated with previously reported haplotypes, whereas others were found on different haplotypes. Recombination or recurrence of mutations may explain these different associations, although other intragenic markers must be used to better understand the origin and dispersion of CF mutations in our country. XK haplotype analysis allowed carrier detection among sibs in 24.3% of families, showing that this method may be useful for carrier detection in populations with high allelic heterogeneity. © 2001 Wiley-Liss, Inc. |
| Colaborador(es) u otros Autores: | González Lizbeth Chávez Margarita Velázquez Rafael Lezana José Luis Saldaña Yolanda Villarreal Teresa Carneval Alessandra |
| Fecha de publicación : | 2001 |
| Tipo de publicación: | Artículo |
| Formato: | |
| Identificador del Recurso : | 10.1002/ajmg.1465 |
| Fuente: | American Journal of Medical Genetics 102(3):277 - 281 |
| URI : | http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2962 |
| Idioma: | eng |
| Aparece en las colecciones: | Artículos |
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