title: Identification of novel allele on the locus 47z (DXYS5) in the Korean population.
abstract: Two homogenous sequences of 47z (DXYS5) are located on the X (DXYS5X) and Y (DXYS5Y) chromosomes, and these are known to be useful polymorphic markers for tracing male-specific gene flow such as the migration routes of human populations. Using the 47z/StuI PCR-RFLP system, we found a novel allele which showed two bands, in contrast to the previous two allele types, one band (Y1) and three bands (Y2). This means that copies of PCR products derived from both the DXYS5X and DXYS5Y loci were clearly cut by the StuI enzyme, implying that the DXYS5X locus of the X chromosome is polymorphic. Allelic frequencies examined in 267 male Korean individuals showed that 95.8% had Y1, 3.4% Y2, and 0.8% had the novel allele. Our findings should contribute to a better understanding of genetic polymorphism on X and Y chromosomes, the molecular evolution mechanism of sex chromosomes, and how the migration route of Koreans is related to those of other East Asian populations.
authors.affiliation: Genome Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), 305-333 Daejeon, South Korea.
authors.forename: Sung-Hwa
authors.initials: SH
authors.lastname: Chae
authors.forename: Jeong-Mo
authors.initials: JM
authors.lastname: Kim
authors.forename: Il-Chul
authors.initials: IC
authors.lastname: Kim
authors.forename: Han-Ho
authors.initials: HH
authors.lastname: Choi
authors.forename: Sang-Haeng
authors.initials: SH
authors.lastname: Choi
authors.forename: Dae-Won
authors.initials: DW
authors.lastname: Kim
authors.forename: Sukhoon
authors.initials: S
authors.lastname: Koh
authors.forename: Hwayong
authors.initials: H
authors.lastname: Park
authors.forename: Hong-Seog
authors.initials: HS
authors.lastname: Park
mesh_terms: D001483:Base Sequence; D019143:Evolution, Molecular; D005787:Gene Frequency; D050172:Genes, X-Linked; D050173:Genes, Y-Linked; D006801:Humans; D007723:Korea / Q000208:ethnology; D008297:Male; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D016415:Sequence Alignment; D012730:Sex Chromosomes / Q000235:genetics*