[The molecular genetics of cystic fibrosis: the delta F508 allele in Mexican families].

Autor: Rojas-Martínez A; Departamento de Bioquímica, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, México., Vázquez-Alemán RM, Gustincich S, Cantú JM, Barrera-Saldaña HA
Jazyk: Spanish; Castilian
Zdroj: Boletin medico del Hospital Infantil de Mexico [Bol Med Hosp Infant Mex] 1992 Jun; Vol. 49 (6), pp. 335-41.
Abstrakt: We have initiated the screening of the delta F508 cystic fibrosis (CF) mutation in our country basing our study on the polymerase chain reaction technique. In a sample of 10 western and a northeastern Mexican families that have at least one CF affected child, we found a delta F508 frequency of 59.1% among CF chromosomes. This frequency is similar to those reported for Spain. Furthermore, we found a correlation between the delta F508 allele and pancreatic insufficiency. This paper points out the advantage of the polymerase chain reaction technology for the analysis of Mendelian disorders.
Databáze: MEDLINE