Mutation analysis of 184 cystic fibrosis families in Wales.

Abstract excerpt

We describe a molecular analysis of 184 cystic fibrosis (CF) families in Wales. To determine accurate frequency data for the CF mutations in the Welsh population, families with at least three Welsh grandparents were strictly regarded as Welsh. Of these 74 families, we have identified approximately 90% of mutations causing CF, with delta F508 accounting for 71.8% and 621 + 1G greater than T 6.7%. We observed a...

Topics

• Base Sequence
• Blood Proteins
• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• DNA Mutational Analysis
• Gene Frequency
• Haplotypes
• Humans
• Molecular Sequence Data
• Mutation
• Polymerase Chain Reaction