Lin Yu-Ying, Wei Ai-Hua, He Xin, Zhou Zhi-Yong, Lian Shi, Zhu Wei
Department of Dermatology, Xuan Wu Hospital, Capital Medical University, 45 Changchun St, Xuanwu District, Beijing 100053, China.
Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.
Eur J Dermatol. 2014 Mar-Apr;24(2):168-73. doi: 10.1684/ejd.2014.2304.
Oculocutaneous albinism (OCA) is a congenital genetic disorder characterized by defects in melanin production. OCA type 1 (OCA1) is the most serious and common type of OCA. This study characterized mutations associated with OCA1 in a series of Chinese patients.
We recruited 41 unrelated patients with OCA and 100 healthy subjects from the Chinese Han population. Genomic DNA was extracted from their blood samples. Mutational analysis of tyrosinase (TYR) genes was conducted using polymerase chain reaction (PCR) and direct sequencing, specifically to test the 100 control subjects and exclude the possibility of polymorphism. Mutational analysis and bioinformatics study were performed in TYR mutations.
Among the 24 (58.5%) patients with OCA1, 21 different TYR mutations were identified, including three previously unidentified alleles (PUAs): one frameshift mutation (c.216delA) and two missense mutations (A241T and N364K). The proband mutation A241T carries three possible mutations in complex OCA.
The findings of this study expand current knowledge and data of mutations associated with OCA1 in China and allow us to estimate or explore the mutation spectrum and relative frequencies of the TYR gene in the Chinese population.
眼皮肤白化病（OCA）是一种先天性遗传疾病，其特征为黑色素生成缺陷。1型眼皮肤白化病（OCA1）是最严重且最常见的OCA类型。本研究对一系列中国患者中与OCA1相关的突变进行了特征分析。
我们从中国汉族人群中招募了41例无亲缘关系的OCA患者和100名健康受试者。从他们的血液样本中提取基因组DNA。使用聚合酶链反应（PCR）和直接测序对酪氨酸酶（TYR）基因进行突变分析，特别对100名对照受试者进行检测，以排除多态性的可能性。对TYR突变进行了突变分析和生物信息学研究。
在24例（58.5%）OCA1患者中，鉴定出21种不同的TYR突变，包括3个先前未鉴定的等位基因（PUA）：1个移码突变（c.216delA）和2个错义突变（A241T和N364K）。先证者突变A241T在复杂型OCA中携带3种可能的突变。
本研究结果扩展了中国与OCA1相关突变的现有知识和数据，使我们能够估计或探索中国人群中TYR基因的突变谱和相对频率。
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