Duan Hong-lei, Li Hong-yi, Wu Wei-qing, Zheng Hui, Chen Zheng
Department of Medical Genetics, Zhongshan Medical College, Sun-Yat-sen University, Guangzhou, Guangdong 510089, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Dec;23(6):614-7.
To investigate gene mutations of a consanguineous family with two oculocutaneous albinism (OCA) patients.
Genomic DNA was prepared from peripheral leukocytes. All of the exons and flanking introns of P gene and TYR gene were PCR-direct-sequenced. Hha I restriction fragment length polymorphism in codon 787 of the P gene was studied in the family and 102 unrelated normal Chinese individuals.
Although no mutations were found in TYR gene, a missense mutation A787T was found in P gene. Two patients of the family were both homozygous for A787T. Their parents and brother were heterozygous for the mutation. The mutation was not observed among 102 normally pigmented subjects.
The A787T mutation is not a common polymorphism among normal Chinese and it seems most likely to be a pathological OCA2 mutation. This is the first report on the study of gene diagnosis in Chinese OCA2 patients.
研究一个有两名眼皮肤白化病（OCA）患者的近亲家庭的基因突变情况。
从外周血白细胞中提取基因组DNA。对P基因和TYR基因的所有外显子及侧翼内含子进行PCR直接测序。在该家族及102名无亲缘关系的正常中国个体中研究P基因第787密码子处的Hha I限制性片段长度多态性。
虽然在TYR基因中未发现突变，但在P基因中发现了一个错义突变A787T。该家族的两名患者均为A787T纯合子。他们的父母和兄弟为该突变的杂合子。在102名色素正常的个体中未观察到该突变。
A787T突变在中国正常人群中并非常见多态性，很可能是病理性OCA2突变。这是关于中国OCA2患者基因诊断研究的首次报道。
