title: Distribution of OCA2∗481Thr and OCA2∗615Arg, associated with hypopigmentation, in several additional populations.
abstract: Two mutants, OCA2∗481Thr (c.1441G>A, p.Ala481Thr) and OCA2∗615Arg (c.1844A>G, p.His615Arg), in the OCA2 (oculocutaneous albinism type II) gene are associated with hypopigmentation in East Asians. Here, these two alleles were studied to assess the frequencies in five different populations. In addition, the allele frequency of OCA2∗615Arg was investigated in seven populations. Among a total of 24 global populations investigated, Oroqens in Heihe showed the highest frequency for OCA2∗481Thr (0.519), and among 26 populations, Han Chinese in Changsha showed the highest frequency for OCA2∗615Arg (0.673). This study confirmed that these two East Asian-specific alleles are characteristic of northern and central-southern East Asian populations.
authors.affiliation: Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan. yuasai@med.tottori-u.ac.jp
authors.forename: Isao
authors.initials: I
authors.lastname: Yuasa
authors.forename: Shinji
authors.initials: S
authors.lastname: Harihara
authors.forename: Feng
authors.initials: F
authors.lastname: Jin
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Nishimukai
authors.forename: Junko
authors.initials: J
authors.lastname: Fujihara
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Fukumori
authors.forename: Haruo
authors.initials: H
authors.lastname: Takeshita
authors.forename: Kazuo
authors.initials: K
authors.lastname: Umetsu
authors.forename: Naruya
authors.initials: N
authors.lastname: Saitou
mesh_terms: D016115:Albinism, Oculocutaneous / Q000235:genetics*; D001208:Asia; D044466:Asian People / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D026901:Membrane Transport Proteins; C489600:OCA2 protein, human