Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Department of Dermatology, Xuan Wu Hospital, Capital Medical University, Beijing, China.
J Invest Dermatol. 2010 Mar;130(3):716-24. doi: 10.1038/jid.2009.339. Epub 2009 Oct 29.
Oculocutaneous albinism (OCA) is a heterogeneous recessive disorder with hypopigmentation in the skin, hair, and eyes. At least 16 genes have been identified as causative genes for human OCA. No comprehensive analysis has been conducted to study the spectral distribution of OCA in Chinese patients. We screened 127 unrelated and unselected Chinese OCA patients for mutations in the TYR, OCA2, TYRP1, SLC45A2, and HPS1 genes. We found that the spectrum of mutational genes and alleles of OCA is population specific. OCA1 is the most common (70.1% of cases) form of Chinese OCA, whereas OCA2, OCA4, and HPS1 account for 10.2%, 12.6%, and 1.6%, respectively. No apparent pathological mutation of TYRP1 has been found. Thirty-eight previously unreported mutational alleles were identified from these OCA patients and were not found in 100 nonalbinism subjects. Of the TYR mutational alleles, 81.1% were clustered on exons 1 and 2. Ten common alleles account for 74.6% of the mutational TYR alleles in Chinese OCA1 patients. The p.D160H allele accounts for 55.6% of the mutational SLC45A2 alleles in Chinese OCA4 patients. These results provide useful information for the establishment of an optimized strategy of gene diagnosis and genetic counseling of Chinese OCA patients.
眼皮肤白化病（OCA）是一种异质性隐性遗传病，伴有皮肤、毛发和眼睛色素减退。至少有 16 个基因已被确定为人类 OCA 的致病基因。目前尚未对中国患者 OCA 的光谱分布进行全面分析。我们筛选了 127 名无血缘关系且未经选择的中国 OCA 患者，以研究 TYR、OCA2、TYRP1、SLC45A2 和 HPS1 基因中的突变。我们发现 OCA 突变基因和等位基因的谱是具有人群特异性的。OCA1 是中国最常见的（占病例的 70.1%）OCA 形式，而 OCA2、OCA4 和 HPS1 分别占 10.2%、12.6%和 1.6%。未发现 TYRP1 明显的病理性突变。从这些 OCA 患者中鉴定出 38 个以前未报道的突变等位基因，而在 100 名非白化病对照中未发现这些等位基因。在 TYR 突变等位基因中，81.1%聚集在第 1 和第 2 外显子上。10 个常见等位基因占中国 OCA1 患者突变 TYR 等位基因的 74.6%。p.D160H 等位基因占中国 OCA4 患者突变 SLC45A2 等位基因的 55.6%。这些结果为建立中国 OCA 患者基因诊断和遗传咨询的优化策略提供了有用信息。
