The E233del mutation in BFSP2 causing progressive autosomal dominant cataract in a Chinese family

作     者：Xiaobo Cui~1 Linghan Gao~2 Jing Bai~1 Yi Zhang~1 Guoyin Feng~2 Weiqi Oao~3 Ping Liu~3 Lin He~2 Songbin Fu~(1,4) (1.Laboratory of Medical Genetics,Harbin Medical University,Harbin,China 150081 2.Bio-X Life Science Research Center,Shanghai Jiao Tong University.Shanghai.200030 Institute for Nutritional Sciences.Shanghai Institute of Biological Sciences.Chinese Academy of Sciences.Shangha.200031 3.Affiliated First Hospital of Harbin Medical University.Harbin.China 150001 4.Bio-pharmaceutical Key Laboratory of Heilongjiang Province.Harbin,150081) 

会议名称：《遗传学进步与人口健康高峰论坛》

会议日期：2007年

学科分类：1002[医学-临床医学] 100212[医学-眼科学] 10[医学] 

摘      要：Congenital cataract is a fundamental cause of blindness throughout the world.A large multigenerational family in North China was investigated to determine the genetic cause of an autosomal dominant congenital *** lamp photography was conducted in order to provide definite data for cataract diagnosis.A genome wide scan and linkage analysis were carried out to shield the linkage region on the *** BFSP2 gene was investigated by direct sequencing and detection of