Article
G542X mutation in Mexican cystic fibrosis patients.
Clinical genetics - 1 Jan 1996
Villarreal M T, Chávez M, Lezana J L, Cuevas F, Carnevale A, Códova E, del Angel R M, Orozco L
Abstract excerpt
We analyzed the frequency of the G542X mutation in a sample of 76 Mexican cystic fibrosis patients and the genotype-phenotype correlation. The mutation was screened using PCR-mediated site-directed mutagenesis, and was present on 7.2% of the CF chromosomes. This frequency is significantly higher than the worldwide frequency according to the Cystic Fibrosis Genetic Analysis Consortium (3.4%, p < 0.01), and similar...
Topics
- Base Sequence
- Child, Preschool
- Cystic Fibrosis
- DNA Primers
- Female
- Gene Frequency
- Humans
- Infant
- Male
- Mexico
- Molecular Sequence Data
- Mutation
- Pedigree