Ian Dorval

Allele frequencies of hereditary hemochromatosis gene mutations in a local population of west Brittany

Abstract Hereditary hemochromatosis (HH) gene mutations, C282Y and H63D, have been screened in a cohort of 254presumably healthy persons originating from a western region of France.The carrier frequencies of these mutations and the incidence of HH have been estimated and compared with those of other studies. This cohort contains two C282Y/C282Y genotypes and has the highest C282Y heterozygosity frequency (17.46%) ever reported.

Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20.

The cystic fibrosis (CF) gene has been cloned and a major mutation identified (ΔF508). This 3-bp deletion has been found in approximately 70% of CF chromosomes. We have used the strategy of denaturing gradient gel electrophoresis followed by direct sequencing of the polymerase chain reaction products, in order to detect other mutations in exons 10, 11 and 20 of the CF transmembrane conductance regulator gene. A new mutation, F1286-S, was found in exon 20. It involves a nucleotide change of T→C at nucleotide 3989 and changes a phenylalanine into serine at position 1286 of the protein.