title: Variations of the CFTR gene in the Hanoi-Vietnamese.
abstract: In order to investigate polymorphic backgrounds of the cystic fibrosis transmembrane conductance regulator gene (CFTR) in the Vietnamese, we analyzed 495 blood samples of randomly selected healthy individuals in Hanoi for the delta F508 mutation and TG-repeats, poly-T, and M470V polymorphisms. We compared their distributions with those of Caucasians and other Asian populations. No delta F508 mutation was found, being consistent with the extremely low incidence of cystic fibrosis (CF) in Vietnam. Allele frequency of the T5 allele promoting exon 9 skipping was 0.037. Greater number of TG-repeats, which is known to facilitate this aberrant splicing, was a predominant trend in the Vietnamese and other Asians. A "T5-TG12-V470" haplotype was most common (29/37) among T5-bearing haplotypes. Three major haplotypes, T7-TG12-M470, T7-TG11-V470, and T7-TG12-V470, estimated by PHASE program, related to 92% of the population. This is the first study of the CFTR gene among the Vietnamese.
authors.affiliation: Department of Respiratory Diseases, Research Institute, International Medical Center of Japan, Tokyo, Japan.
authors.forename: Mai H
authors.initials: MH
authors.lastname: Nam
authors.forename: Minako
authors.initials: M
authors.lastname: Hijikata
authors.forename: Le A
authors.initials: LA
authors.lastname: Tuan
authors.forename: Luu T
authors.initials: LT
authors.lastname: Lien
authors.forename: Junko
authors.initials: J
authors.lastname: Shojima
authors.forename: Toru
authors.initials: T
authors.lastname: Horie
authors.forename: Koh
authors.initials: K
authors.lastname: Nakata
authors.forename: Ikumi
authors.initials: I
authors.lastname: Matsushita
authors.forename: Jun
authors.initials: J
authors.lastname: Ohashi
authors.forename: Katsushi
authors.initials: K
authors.lastname: Tokunaga
authors.forename: Naoto
authors.initials: N
authors.lastname: Keicho
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D018900:Dinucleotide Repeats / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011071:Poly T / Q000235:genetics; D011110:Polymorphism, Genetic; D014744:Vietnam
chemical_list: C505032:CFTR protein, human; C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D011071:Poly T