title: Dinucleotide repeat in the 3' flanking region provides a clue to the molecular evolution of the Duffy gene.
abstract: The Duffy blood group system consists of three alleles, FYA, FYB, and FY. To study the molecular evolution of the three alleles, we established the polymorphism of a dinucleotide (GT) repeat sequence (designated FyGT/C) in the 3' flanking region of the Duffy gene, and studied the relationship between FyGT/C and Duffy polymorphism in Japanese, people of African origin, and chimpanzee. By single-strand conformation polymorphism and sequence analysis, five and two alleles were identified in Japanese and Africans, respectively. In 110 random Japanese, the FyGT/C genotypes observed were in agreement with Hardy-Weinberg law. From the sequence of the chimpanzee Duffy gene, including both flanking regions, FYB was identified as the ancestral gene of the human alleles. The FyGT/C sequences associated with the FY allele of Africans were distinct from those of Duffy positives, whereas the FYB and FYA alleles shared common FyGT/C sequences. Thus, it is suggested that the first split took place between the FYB and FY alleles, and the second between the FYB and FYA alleles.
authors.affiliation: Department of Legal Medicine and Human Genetics, Jichi Medical School, Tochigi, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Li
authors.forename: S
authors.initials: S
authors.lastname: Iwamoto
authors.forename: N
authors.initials: N
authors.lastname: Sugimoto
authors.forename: H
authors.initials: H
authors.lastname: Okuda
authors.forename: E
authors.initials: E
authors.lastname: Kajii
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D017931:DNA Primers; D018900:Dinucleotide Repeats; D004375:Duffy Blood-Group System / Q000235:genetics*; D019143:Evolution, Molecular; D005787:Gene Frequency; D006801:Humans; D007564:Japan; D002679:Pan troglodytes; D010802:Phylogeny; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012045:Regulatory Sequences, Nucleic Acid
chemical_list: D017931:DNA Primers; D004375:Duffy Blood-Group System