title: [Genotypes of cystic fibrosis (CF) reported in the world and polymorphisms of cystic fibrosis transmembrane conductance regulator (CFTR) gene in Japanese].
abstract: Cystic fibrosis (CF) is a common autosomal recessive genetic disorder in Caucasians. Since identification of the gene responsible for CF in 1989, over 400 sequential alterations of the CFTR gene have been tabulated by the CF Genetic Analysis Consortium. However, except for the delta F508 mutation, which occurs in approximately 70% of CF chromosomes, the worldwide frequency of most mutations in this gene is less than 1%. In Orientals and African blacks, CF is very rare. In Japanese only 100 cases have been reported. A few genotypes of these cases have been analyzed but no delta F508 or other mutations were found. We have analyzed mutations of the CFTR gene in Japanese with diffuse panbronchiolitis (DPB), which is found only in Orientals and shares pathologic and clinical characteristics with mild adult CF. However, no significant mutation of the CFTR gene was identified in this series. This suggests a different etiological background from that of CF.
authors.affiliation: First Department of Internal Medicine, Tohoku University School of Medicine.
authors.forename: W
authors.initials: W
authors.lastname: Wang
authors.forename: H
authors.initials: H
authors.lastname: Okayama
authors.forename: K
authors.initials: K
authors.lastname: Shirato
mesh_terms: D044466:Asian People / Q000235:genetics*; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007564:Japan; D009154:Mutation; D011110:Polymorphism, Genetic
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator