title: TaqI polymorphism in the 3' flanking region of the PI gene among Kuwaiti Arabs and Russians.
abstract: The Taq1 polymorphism in the 3' flanking region of the PI gene has been reported to be associated with chronic obstructive pulmonary disease (COPD). We have studied the frequency of the Taq1 polymorphism in 117 Kuwaiti Arabs and 110 Russians using PCR/RFLP. The frequency of this polymorphism was found to be 0.235 in the Arabs and 0.027 in the Russians. Such a striking difference in allele frequencies could be due to a 'founder effect' in the Kuwaiti population. However: it may also be that this mutation provides a selective advantage, thus accounting for its fixation at a rather high frequency in some populations. Our results suggest that ethnic composition is a very important factor which should be taken into consideration when studying the association of the Taq1 polymorphism with COPD.
authors.affiliation: Kuwait Medical Genetics Center, Kuwait.
authors.forename: E
authors.initials: E
authors.lastname: Samilchuk
authors.forename: B
authors.initials: B
authors.lastname: D'Souza
authors.forename: A
authors.initials: A
authors.lastname: Voevodin
authors.forename: A
authors.initials: A
authors.lastname: Chuchalin
authors.forename: S
authors.initials: S
authors.lastname: al-Awadi
mesh_terms: D000483:Alleles; D000818:Animals; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics*; D006801:Humans; D007730:Kuwait; D008173:Lung Diseases, Obstructive / Q000235:genetics; D008969:Molecular Sequence Data; D002679:Pan troglodytes; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012426:Russia; D000515:alpha 1-Antitrypsin / Q000737:chemistry* / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases