文献简介

出版社:Cell Biochem Biophys

作  者:Kai-hui Zhang • Zhuo Li • Jie Lei • Ting Pang • Bei Xu • Wei-ying Jiang • Hong-yi Li

编  号:10.1007/s12013-011-9234-0

关键字:Oculocutaneous albinism type 3  TYRP1  Mutation  Chinese

年  份:2011   点击量:1704

文献摘要

Abstract

摘要:

Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, and hair. OCA exhibits genetic heterogeneity. Presently, there are four types of OCA named as OCA1, OCA2, OCA3, and OCA4. OCA3 is more common in African born blacks but rarely found in other ethnic populations. Our recent genotyping of patients with OCA of Chinese descent has identified two patients who were not OCA1, OCA2, or OCA4. Examination and analysis of the TYRP1 gene identified them to be having OCA3. PCR and DNA sequencing analysis found that the mutant TYPR1 alleles were present in each of the two patients, c.780-791del/ c.1067G>A (p.R356Q) and c.625G>TT (p.G209LfsX1)/ c.643C>T (p.H215Y). The c.780-791del and c.1067G>A mutations have been already reported. However, the c.625G>TT and c.643C>T mutations have not been previously reported and were found to be maternal and paternal mutations, respectively. Based on the similar mild phenotype of these two patients, we suggest that OCA3 might be prevalent within the Chinese population.

眼皮肤白化病(OCA)是一种遗传性疾病,以眼睛、皮肤和头发处黑色素的减少或缺乏为特征。OCA具有遗传异质性。目前,OCA有四种类型分别命名为OCA1、OCA2、OCA3和OCA4。OCA3多见于非洲出生的黑种人,但在其他种族人群中很少发现。患者我们与具有中国血统的OCA患者的最新基因分型鉴定不是OCA1、OCA2、或OCA4。检查并分析TYRP1基因证实他们有OCA3。PCR和DNA测序分析发现,在这两名患者中都存在TYPR1等位基因的突变,该c.780-791del和c.1067G> A突变已有报道。然而,c.625G> TT和c.643C> T突变未见报道,并且被认为是母亲和父亲的基因突变。根据这两名患者类似轻微的表型,我们研究表明OCA3型在中国人群中可能是很普遍的。