Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism
复制标题
中国眼皮肤白化病患者基因检测优化策略的实施。
DOI：
10.1016/j.jdermsci.2011.02.009
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发表时间：
2011-05-01
影响因子：
4.6
通讯作者：
Li, Wei
中科院分区：
文献类型：
--
作者：
Wei, Aihua;Yang, Xiumin;Li, Wei
背景：眼皮肤白化病（OCA）是一种相对常见的遗传性疾病，在世界各地的所有人群。目的：在分子流行病学研究的基础上，优化我国OCA患者的基因检测策略，为OCA的基因检测提供依据。PCR扩增的DNA片段经直接测序检测TYR、OCA 2、TYRP 1、SLC 45 A2和HPS 1突变。为了从多态性中排除先前未鉴定的等位基因（PUA），对来自100个未受影响的对照的样品进行了相同变异区域的测序。在52名OCA患者中，TYR基因突变率为50.0%，OCA 2基因突变率为15.4%，SLC 45 A2基因突变率为23.1%，HPS 1基因突变率为3.8%，未鉴定突变率为7.7%。共检测出18个PUA，其中TYR 2个，OCA 2 7个，SLC 45 A2 8个，HPS 1 1个。结论：优化的OCA基因检测方法可有效地应用于中国OCA患者的常规基因检测和遗传咨询。(C)2011年日本皮肤病研究学会。由Elsevier爱尔兰有限公司出版。保留所有权利。
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.