title: Haplotypes in the 5'-upstream region, exons 3 and 4, and introns 2 and 3 of the ABO blood group gene.
abstract: We previously described two haplotypes named the ABORR*L-associated and ABORR*S-associated haplotypes in the 5'-upstream region of the ABO blood group gene. Here we studied polymorphisms in exons (Exs) 3 and 4 and introns (Ints) 2 and 3 of the ABO gene, and analyzed the haplotypes in those Exs, Ints, and the 5'-upstream region. Two haplotypes (at Int2nt108-Int2nt362-Int2nt369-Int2nt539-Ex3nt106-Int3nt1178-Int3nt1357-Ex4nt188-Ex4nt189) were deduced to be (1) A-C-C-C-T-C-T-A-T, which was linked with ABORR*L and ABO*O(A), and (2) A-C-C-C-G-T-C-G-C, G-C-C-C-G-T-C-G-C, and A-T-G-A-G-T-C-G-C, which were linked with ABORR*S and the other common ABO alleles. This finding also shows the existence of two major lineages of the Japanese ABO alleles.
authors.affiliation: Department of Legal Medicine, Ehime University Graduate School of Medicine, Ehime 791-0295, Japan. nishimuk@m.ehime-u.ac.jp
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Nishimukai
authors.forename: Tatsuyuki
authors.initials: T
authors.lastname: Okiura
authors.forename: Ryusuke
authors.initials: R
authors.lastname: Tsujimura
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Tanabe
authors.forename: Chitoshi
authors.initials: C
authors.lastname: Orimoto
authors.forename: Norifumi
authors.initials: N
authors.lastname: Ueda
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Fukumori
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D044466:Asian People / Q000235:genetics; D005091:Exons; D006239:Haplotypes; D006801:Humans; D007438:Introns; D007564:Japan; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D000017:ABO Blood-Group System