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Abstract
Oculocutaneous albinism type 2 (OCA2) is an autosomal recessive disorder that results from mutations in the P gene, and has approximately 70% function of melanin biosynthesis in the melanocytes. While the overwhelming majority of pigmentation studies have focused on European populations, very little is known about the gene and mechanisms affecting skin lightening in Asian population. The main goal of the study was to test the distribution of three polymorphisms located in a pigmentation candidate gene, OCA2, in a sample of individuals of Koreans (N = 250). The genetic markers were selected for polymorphisms that had an allele frequency difference of at least 30% between East Asian populations and European populations. We investigated Minor Allele Frequencies (MAFs) for each of three polymorphisms within OCA2 and reevaluated the difference of the allele frequency along with populations. MAFs of polymorphisms of OCA2 were presented the different frequency in Korean samples (SNP rs1800414 (His615Arg), A allele = 38.8%, rs74653330 (Ala481Thr), A allele = 0.8% and rs7497270 (intronic polymorphism), C allele = 33.4%). While our results had different distributions to European and Caucasians, they showed similar frequencies with East Asian. This study was to reevaluate the distribution of pigmentation candidate gene in Korean samples, further domestic study will aid in developments of the genetic information on worldwide study.
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Fig. 1.
Analysis of SSCP and DNA sequences for the SNP rs74653330 (Ala481Thr) within OCA2 in Korean samples. (a) SSCP was performed for the detection of a single-strand DNA fragment by electrophoresis on 10% polyacrylamide gel. (b) DNA sequencing of the SNP (Ala481Thr) region was performed for exon 14 of OCA2 on chromosome 15.
Table 1.
Primer sequences for PCR-SSCP and detection assay
Table 2.
Genotype frequencies observed for the three polymorphisms analyzed in this study
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