Literature DB >> 21565543

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

Isao Yuasa1, Shinji Harihara, Feng Jin, Hiroaki Nishimukai, Junko Fujihara, Yasuo Fukumori, Haruo Takeshita, Kazuo Umetsu, Naruya Saitou.   

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. 2011 Elsevier Ireland Ltd. All rights reserved.

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Year:  2011        PMID： 21565543     DOI： 10.1016/j.legalmed.2011.04.003

Source DB:  PubMed          Journal:  Leg Med (Tokyo)        ISSN： 1344-6223            Impact factor:   1.376


  7 in total

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2.  Distribution of two OCA2 polymorphisms associated with pigmentation in East-Asian populations.

Authors:  Nicole Murray; Heather L Norton; Esteban J Parra
Journal:  Hum Genome Var       Date:  2015-12-10

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Review 4.  Human pigmentation genes under environmental selection.

Authors:  Richard A Sturm; David L Duffy
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Review 6.  Clinical and Biological Characterization of Skin Pigmentation Diversity and Its Consequences on UV Impact.

Authors:  Sandra Del Bino; Christine Duval; Françoise Bernerd
Journal:  Int J Mol Sci       Date:  2018-09-08       Impact factor: 5.923

7.  The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.

Authors:  Kenneth K Kidd; Andrew J Pakstis; Michael P Donnelly; Ozlem Bulbul; Lotfi Cherni; Cemal Gurkan; Longli Kang; Hui Li; Libing Yun; Peristera Paschou; Kelly A Meiklejohn; Eva Haigh; William C Speed
Journal:  Sci Rep       Date:  2020-09-22       Impact factor: 4.379
  7 in total

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