title: Polymorphic site study at codon 347 of apolipoprotein A-IV in a Japanese population.
abstract: In a population of Japanese subjects, we surveyed codon 347 of the apolipoprotein (apo) A-IV gene and found that the frequency of a rare allele at this point was extremely low compared to that in western populations. Only one of 850 unrelated samples showed mutation at the enzyme recognition site by agarose gel electrophoresis. However, direct sequencing of the coding region revealed that it did not result from the ACT (Thr) to TCT (Ser) mutation which has been reported in western countries, but from an ACT to ACG (Thr) mutation, which does not affect the primary structure of apo A-IV. Two additional family members showed the same point mutation at codon 347.
authors.affiliation: Department of Internal Medicine, Fukuoka University School of Medicine, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Bai
authors.forename: K
authors.initials: K
authors.lastname: Saku
authors.forename: R
authors.initials: R
authors.lastname: Liu
authors.forename: H
authors.initials: H
authors.lastname: Funke
authors.forename: A
authors.initials: A
authors.lastname: von Eckardstein
authors.forename: K
authors.initials: K
authors.lastname: Arakawa
mesh_terms: D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001054:Apolipoproteins A / Q000235:genetics*; D001483:Base Sequence; D001665:Binding Sites; D003062:Codon; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D001054:Apolipoproteins A; D003062:Codon; C022205:apolipoprotein A-IV