浙江医学Issue(3)：189-192,196,5.
先天性白内障一家系的致病基因研究
Gene mutation analysis of a Chinese family with congenital cataract
摘要
Abstract
Objective To identify the pathogenic gene of congenital cataract in a Chinese family. Methods In a three- generation Chinese family 4 members were affected by congenital cataract in both eyes. Ten individuals from this family underwent ophthalmologic and physical examination in Zhejiang Provincial People's Hospital. The DNA was extracted from pe-riphery blood samples and amplified by PCR. The PCR products were sequenced and analyzed to detect mutations of 18 autoso-mal dominant congenital contact- related genes (CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYGC, CRYGD, CRYGS, GJA3, GJA8, MIP, BFSP, HSF4, PITX3, EPHA2 and PAX6). Results The congenital cataract in this family is pulverulent type. A C→T mutation at 6 base in the first exon of CRYAA gene was detected, which was coding the same amino acid (asparaginic acid). Al the patients in this family had this mutation, while the mutation was not detected in normal family mem-bers. Conclusion The study identifies a mutation in CRYAA, which may contribute to the pathogenesis of congenital cataract in this family.关键词
先天性白内障/基因突变/晶状体蛋白基因Key words
Congenital cataract/Gene mutation/Crystallin genes引用本文复制引用
郑青青,李文伟,沈婷,洪朝阳..先天性白内障一家系的致病基因研究[J].浙江医学,2015,(3):189-192,196,5.基金项目
浙江省卫生厅科技项目 （）
