Sundaresan Periasamy, Sil Asim Kumar, Philp Alisdair R, Randolph Mary A, Natchiar Govindappa, Namperumalsamy Perumalsamy
Department of Genetics, Aravind Medical Research Foundation, Madurai, Tamilnadu, India.
Mol Vis. 2004 Dec 27;10:1005-10.
Oculocutaneous albinism type 1 (OCA1) patients demonstrate a partial or total lack of melanin in the skin, hair and eye. OCA1 is an autosomal recessive genetic disorder caused by mutations in the TYR gene located at chromosome band 11q14-q25. The purpose of this study was to carry out genetic analysis of OCA1 in Indian families.
Genomic DNA was isolated from blood leukocytes of all the individuals in this study. Haplotype analysis was performed at the TYR locus using informative microsatellite markers. Eight sets of primers were used to amplify the entire coding region of the TYR gene for bidirectional direct sequencing mutation analysis.
Two novel deletions (c.937del8, c.1379del2) and a previously known nonsense mutation (R278X) in the TYR gene were identified from a total of 8 oculocutaneous albinism patients in India.
Our study reports the distribution of two novel frameshift and a previously reported nonsense mutations in four OCA1 families from the Indian population. These findings will contribute to the development of a diagnostic method for OCA1 carrier status and genetic counseling for OCA1 affected families.
1型眼皮肤白化病（OCA1）患者在皮肤、毛发和眼睛中表现出部分或完全缺乏黑色素。OCA1是一种常染色体隐性遗传疾病，由位于11号染色体q14 - q25区域的TYR基因突变引起。本研究的目的是对印度家庭中的OCA1进行基因分析。
从本研究中所有个体的血液白细胞中分离基因组DNA。使用信息性微卫星标记在TYR基因座进行单倍型分析。使用八组引物扩增TYR基因的整个编码区以进行双向直接测序突变分析。
从印度总共8例眼皮肤白化病患者中鉴定出TYR基因的两个新缺失（c.937del8，c.1379del2）和一个先前已知的无义突变（R278X）。
我们的研究报告了来自印度人群的四个OCA1家族中两个新的移码突变和一个先前报道的无义突变的分布情况。这些发现将有助于开发OCA1携带者状态的诊断方法以及为OCA1受累家庭提供遗传咨询。
