Por favor, use este identificador para citar o enlazar este ítem: 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: pdf
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
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