Por favor, use este identificador para citar o enlazar este ítem: http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2822
Título : Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five level mutations (W1098C, 846deIT, P750L, 4160insGGGC and 297-1G→A)
Creador: Orozco L
Nivel de acceso: Open access
Palabras clave : Fibrosis quística - epidemiología
Fibrosis quística - genética
Fibrosis Quística regulador de conductancia transmembrana - genética
Frecuencia de los Genes - genética
Variación genética - genética
Humanos
Cystic Fibrosis - epidemiology
Cystic Fibrosis - genetics
Regulador de Conductancia de Transmembrana de Fibrosis Quística - genetics
Gene Frequency - genetics
Genetic Variation - genetics
Humans
fibrosis quística
genética
Variación genética
epidemiología
Cystic Fibrosis
genetics
Genetic Variation
epidemiology
Descripción : We have analyzed 97 CF unrelated Mexican families for mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Our initial screening for 12 selected CFTR mutations led to mutation detection in 56.66% of the tested chromosomes. In patients with at least one unknown mutation after preliminary screening, an extensive analysis of the CFTR gene by single stranded conformation polymorphism (SSCP) or by multiplex heteroduplex (mHET) analysis was performed. A total of 34 different mutations representing 74.58% of the CF chromosomes were identified, including five novel CFTR mutations: W1098C, P750L, 846delT, 4160insGGGG and 297-1G→A. The level of detection of the CF mutations in Mexico is still lower than that observed in other populations with a relatively low frequency of the ΔF508 mutation, mainly from southern Europe. The CFTR gene analysis described here clearly demonstrated the high heterogeneity of our CF population, which could be explained by the complex ethnic composition of the Mexican population, in particular by the strong impact of the genetic pool from southern European countries.
Colaborador(es) u otros Autores: Velázquez R
Zielenski J
Tsui LC
Chávez M
Lezana JL
Saldaña Y
Hernández E
Carnevale A
Fecha de publicación : 2000
Tipo de publicación: Artículo
Formato: pdf
Identificador del Recurso : 10.1007/s004390051051
Fuente: Human Genetics 106(3):360 - 365
URI : http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2822
Idioma: eng
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