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Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients
Author(s) -
SimonBouy B.,
Mornet E.,
Serre J. L.,
Taillandier A.,
Boué J.,
Boué A.
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03080.x
Subject(s) - haplotype , genetics , biology , cystic fibrosis , restriction fragment length polymorphism , heterozygote advantage , locus (genetics) , cystic fibrosis transmembrane conductance regulator , gene , compound heterozygosity , mutation , genotype , microbiology and biotechnology
Thirteen mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been screened in a French sample of 185 cystic fibrosis (CF) patients, together with their respective associated RFLP haplotypes at the linked D7S23 locus (XV2C and KM19 markers). The respective frequencies of the mutations showed that 9 of them account for 80% of the CF chromosomes. Implications for prenatal diagnosis and heterozygote detection are defined and discussed. The well‐known great excess of RFLP B marker within CF chromosomes is partially explained by two already characterized mutations highly associated with haplotype B: Δ F508 and G542X. Similarly, the excess of haplotype D within CF chromosomes is partially explained by the association between Δ I507 and this haplotype. These results may suggest the existence of two still untested or uncharacterized mutations, whose frequencies could be near 1%, one which would be associated with haplotype B and a second which would be associated with haplotype D. The possible cause of the specific association between most of the main different CF mutations and the RFLP haplotype B is discussed.