Distribution of OCA2∗481Thr and OCA2∗615Arg, associated with hypopigmentation, in several additional populations

Leg Med (Tokyo). 2011 Jul;13(4):215-7. doi: 10.1016/j.legalmed.2011.04.003. Epub 2011 May 11.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Albinism, Oculocutaneous / genetics*
  • Asia
  • Asian People / genetics*
  • Ethnicity / genetics
  • Gene Frequency
  • Genetics, Population*
  • Genotype
  • Humans
  • Membrane Transport Proteins / genetics*
  • Polymorphism, Single Nucleotide*

Substances

  • Membrane Transport Proteins
  • OCA2 protein, human