Background: Oculocutaneous albinism (OCA) is a relatively common inherited disorder in all populations worldwide. The mutational spectra of OCA are population-specific. Objective: Based on our previous molecular epidemiological studies, we have implemented an optimized strategy for the genetic testing of Chinese OCA patients. Methods: Genomic DNA was extracted from the blood samples of 52 clinically diagnosed OCA patients and 100 unaffected subjects. The amplified DNA segments were screened for mutations of TYR, OCA2, TYRP1, SLC45A2 and HPS1 by direct sequencing. To exclude the previously unidentified alleles (PUAs) from polymorphisms, samples from 100 unaffected controls were sequenced for the same regions of variations. Results: Among the 52 OCA patients, 26(50.0%) were found mutations on TYR gene, 8(15.4%) on OCA2, 12 (23.1%) on SLC45A2, 2 (3.8%) on HPS1, and 4 (7.7%) patients uncharacterized. We identified 18 PUAs in these patients, 2 in TYR, 7 in OCA2, 8 in SLC45A2, and 1 in HPS1. Conclusion: The optimized method to screen the OCA mutations is efficiently implemented in the routine genetic testing of Chinese OCA patients accompanied with genetic counseling. (C) 2011 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.
基金：
National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [30730049]; National Basic Research Program of ChinaNational Basic Research Program of China [2007CB947200]; Ministry of Agriculture of ChinaMinistry of Agriculture, China [2009ZX08009-158B]; Natural Science Foundation of BeijingBeijing Natural Science Foundation [7092040]
第一作者机构：[1]Chinese Acad Sci, Key Lab Mol & Dev Biol, Inst Genet & Dev Biol, Beijing 100101, Peoples R China[2]Capital Med Univ, Beijing Tongren Hosp, Dept Dermatol, Beijing 100730, Peoples R China
通讯作者：
通讯机构：[1]Chinese Acad Sci, Key Lab Mol & Dev Biol, Inst Genet & Dev Biol, Beijing 100101, Peoples R China[*1]Chinese Acad Sci, Key Lab Mol & Dev Biol, Inst Genet & Dev Biol, Datun Rd, Beijing 100101, Peoples R China
推荐引用方式(GB/T 7714)：
Wei Aihua,Yang Xiumin,Lian Shi,et al.Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism[J].JOURNAL OF DERMATOLOGICAL SCIENCE.2011,62(2):124-127.doi:10.1016/j.jdermsci.2011.02.009.
APA：
Wei, Aihua,Yang, Xiumin,Lian, Shi&Li, Wei.(2011).Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.JOURNAL OF DERMATOLOGICAL SCIENCE,62,(2)
MLA：
Wei, Aihua,et al."Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism".JOURNAL OF DERMATOLOGICAL SCIENCE 62..2(2011):124-127
