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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: | |
| 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 |
| Aparece en las colecciones: | Artículos |
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