ABCMdb

PMID: 11701644

Scriver CR
Human genetics: lessons from Quebec populations.
Annu Rev Genomics Hum Genet. 2001;2:69-101., [PubMed]

Sentences

No. Mutations Sentence Comment

236 ABCC7 p.Trp1282* ABCC7 p.Gly542* ABCC7 p.Leu206Trp The L206W allele (with a mild phenotypic effect) reflects a particular French Canadian heritage (142), whereas W1282X and G542X are prominent in Ashkenazi Jews (2, 145), which reflects corresponding twentieth century immigrations into Quebec. Login to comment 242 ABCC7 p.Ala455Glu Three mutations ( F508, 60%; 621 + 1, 25.5%; A455E, 8.5%) account for 94% of CF chromosomes in the SLSJ population, with 42% of probands being homoallelic (50). Login to comment 245 ABCC7 p.Ala455Glu The A455E allele, prominent in SLSJ, has a mild effect and confers pancreatic sufficiency (138). Login to comment 246 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu Estimates of inbreeding and kinship coefficients in the SLSJ families harboring F508, 621 + 1, and A455E alleles are somewhat higher than in the general population, and a putative common ancestor for carriers of the A455E allele is claimed (40). Login to comment 905 ABCC7 p.Leu206Trp L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis. Login to comment 921 ABCC7 p.Trp1282* Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Login to comment