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

Authors :: Yuasa I
Harihara S
Jin F
Nishimukai H
Fujihara J
Fukumori Y
Takeshita H
Umetsu K
Saitou N
Source :: Legal medicine (Tokyo, Japan) [Leg Med (Tokyo)] 2011 Jul; Vol. 13 (4), pp. 215-7. Date of Electronic Publication: 2011 May 11.
Publication Year :: 2011
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.<br /> (2011 Elsevier Ireland Ltd. All rights reserved.)

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

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