实施针对中国眼皮肤白化病患者的基因检测优化策略。

Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.

机构信息

Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.

出版信息

J Dermatol Sci. 2011 May;62(2):124-7. doi: 10.1016/j.jdermsci.2011.02.009. Epub 2011 Mar 5.

DOI:10.1016/j.jdermsci.2011.02.009

PMID:21458243

Abstract

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.

摘要

背景

眼皮肤白化病（OCA）是一种在全球所有人群中相对常见的遗传性疾病。OCA 的突变谱具有人群特异性。

目的

基于我们之前的分子流行病学研究，我们已经为中国 OCA 患者的基因检测实施了一种优化策略。

方法

从 52 例临床诊断为 OCA 的患者和 100 名无病对照者的血液样本中提取基因组 DNA。通过直接测序筛选 TYR、OCA2、TYRP1、SLC45A2 和 HPS1 基因的突变。为了排除多态性中的先前未识别等位基因（PUA），对 100 名无病对照者的相同变异区域进行了测序。

结果

在 52 例 OCA 患者中，26 例（50.0%）在 TYR 基因上发现了突变，8 例（15.4%）在 OCA2 上，12 例（23.1%）在 SLC45A2 上，2 例（3.8%）在 HPS1 上，4 例（7.7%）患者未明确定义。我们在这些患者中发现了 18 个 PUA，2 个在 TYR，7 个在 OCA2，8 个在 SLC45A2，1 个在 HPS1。