AUTOSOMAL DOMINANT CATARACTS

白内障是世界范围内最常见的致盲原因。一类 白内障是一种遗传性白内障，以常染色体显性遗传方式遗传。 时尚. PI实验室的研究重点是识别基因位点 以及其中导致常染色体显性遗传的特定突变 白内障在本提案中，PI将继续努力确定新的 常染色体显性遗传性白内障家系和连锁分析继续进行 在现有的和新发现的疾病中， 家族，并通过全基因组筛选，以确定基因座是否已知 或新发现的。进一步的研究将确定新的基因座和/或确定 受影响基因的特定突变如果突变是新的 提出实验来检验假设的有效性， 通过确定突变是否引起ADC， 转基因小鼠的白内障。

Cataract is the most common cause of blindness worldwide. One class of cataracts is hereditary cataracts that are inherited in an autosomal dominant fashion. Research in the PI's laboratory has focused on identifying gene loci and the specific mutations therein that are responsible for autosomal dominant cataracts. In this proposal the PI will continue efforts to identify new families with autosomal dominant cataract and by linkage analyses continue mapping loci that segregate with the disease in existing and newly identified families and, through genome wide screens, to determine if the loci are known or newly identified. Further studies will identify new loci and/or determine the specific mutations in the affected genes. If the mutation is new experiments are proposed to test the validity of the hypothesis that the mutation is causative for the ADC by determining if the mutation causes cataracts in transgenic mice.