Journal
LEGAL MEDICINE
Volume 13, Issue 4, Pages 215-217Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.legalmed.2011.04.003
Keywords
OCA2; Pigmentation; Population-specific; Population study; Single nucleotide polymorphism (SNP)
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Funding
- Japan Society for the Promotion of Science [20590678]
- Grants-in-Aid for Scientific Research [23590849, 21590755, 20590678] Funding Source: KAKEN
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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. (C) 2011 Elsevier Ireland Ltd. All rights reserved.
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