Vijaya R, Gupta R, Panda G, Ravishankar K, Kumaramanickavel G
Department of Genetics and Molecular Biology, Vision Research Foundation, Madras, India.
Clin Genet. 1997 Dec;52(6):427-31. doi: 10.1111/j.1399-0004.1997.tb02563.x.
Adult-onset cataract (AOC) is a major ocular health problem and is the number one cause of blindness in the world. It is interesting to note that if the development of cataract is delayed by 10 years, the number of cataract surgeries needed would decrease by 45%. To prevent or delay cataract, the molecular pathological mechanisms underlying the lens change have to be understood, and this requires that the genes involved in such mechanisms should be identified. Hence, in this study we aim to identify AOC families which show a clear mendelian inheritance pattern, as only these families would be ideal for mapping the genes responsible. Over a period of 8 months, from September 1995-April 1996, 17 families with two or more affected members were identified. Segregation analysis showed autosomal dominant inheritance in multiple affected families. We propose to map the genes responsible for cataract in these families by linkage analysis and mutational screening of candidate genes.
成人迟发性白内障（AOC）是一个主要的眼部健康问题，是全球失明的首要原因。值得注意的是，如果白内障的发展延迟10年，所需的白内障手术数量将减少45%。为了预防或延缓白内障，必须了解晶状体变化背后的分子病理机制，这就需要识别参与这些机制的基因。因此，在本研究中，我们旨在识别呈现明确孟德尔遗传模式的AOC家族，因为只有这些家族才是定位致病基因的理想选择。在1995年9月至1996年4月的8个月时间里，我们识别出了17个有两名或更多患病成员的家族。分离分析显示，多个患病家族呈常染色体显性遗传。我们建议通过连锁分析和候选基因的突变筛查来定位这些家族中导致白内障的基因。
