title: DNA polymorphisms and haplotypes in the 5'-upstream region of the ABO blood group gene.
abstract: We investigated the polymorphisms in the 5'-upstream region between nucleotide position (nt) -9600 and nt-4105 of the ABO blood group gene using PCR and direct sequencing methods. We found 16 single nucleotide polymorphisms, two insertion-deletion polymorphisms and two sequence polymorphisms. One of the insertion-deletion polymorphisms was found at nts from -9605 to -9204, and the alleles of that locus were named ABORR*L (non-deletion) and ABORR*S (52-base-deletion). There were two haplotypes constructed from 14 polymorphisms in the region between nt-9600 and nt-7565; they were tentatively named ABORR*L-associated and ABORR*S-associated haplotypes. The ABORR*L-associated haplotype may link with ABO*O(A) (also known as ABO*O201), and the ABORR*S-associated haplotype links with the other common alleles. This indicates the existence of two major lineages of the Japanese ABO alleles in the 5'-upstream region from nt-7565. In contrast to these findings, we observed six haplotypes in the region between nt-6371 and nt-4105, and we assume that the sequence in that region is variable as compared with those in the other 5'-upstream regions. We examined the generation of two sequence polymorphisms found in the present study. In the both cases, the formation of a hairpin loop caused by palindrome in a single-stranded DNA molecule may play an important role in generating the polymorphism.
authors.affiliation: Division of Legal Medicine, Department of Environmental Health and Social Medicine, Ehime University School of Medicine, Ehime 791-0295, Japan.
authors.forename: Tatsuyuki
authors.initials: T
authors.lastname: Okiura
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Nishimukai
authors.forename: Koji
authors.initials: K
authors.lastname: Nishimura
authors.forename: Chitoshi
authors.initials: C
authors.lastname: Orimoto
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Fukumori
mesh_terms: D024506:5' Flanking Region / Q000235:genetics*; D000017:ABO Blood-Group System / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D000017:ABO Blood-Group System