Cystic fibrosis mutations delta F508 and G542X in Jewish patients.

Abstract excerpt

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...

Topics

• Base Sequence
• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• Exons
• Haplotypes
• Humans
• Jews
• Membrane Proteins
• Molecular Sequence Data
• Mutation