Cystic fibrosis mutations delta F508 and G542X in Jewish patients.

AUTOR(ES)

Lerer, I

RESUMO

We have screened our CF patients for mutations in exons 10 and 11 of the CFTR gene. Two mutations, delta F508 and G542X, have been found in 66 Jewish CF patients. The average frequency of the delta F508 mutation in the Jewish population is 33.8%. The G542X mutation accounts for 13% of the Ashkenazi CF mutations and has been found in three out of seven chromosomes of Jewish patients from Turkey (probably descended from Ashkenazi immigrants). The G542X mutation was not found in any of the other non-Ashkenazi patients. All the G542X bearing chromosomes have the same haplotype. Based on these observations it is concluded that the G542X mutation was introduced into the Jewish people after the split into Ashkenazi and non-Ashkenazi.

Documentos Relacionados

• Frequency of delta F508 in a Mexican sample of cystic fibrosis patients.
• Prevalence of deltaF508, G551D, G542X, and R553X mutations among cystic fibrosis patients in the North of Brazil
• A mouse model for the cystic fibrosis delta F508 mutation.
• A mouse model for the delta F508 allele of cystic fibrosis.
• Pancreatic function and gene deletion F508 in cystic fibrosis.