AUTOSOMAL DOMINANT CATARACTS

白内障是全世界最常见的致盲原因。一类 白内障是常染色体显性遗传的遗传性白内障。 时尚。PI实验室的研究重点是识别基因位点 以及导致常染色体显性遗传的特定突变 白内障。在这项提议中，国际和平研究所将继续努力确定新的 常染色体显性遗传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定位与疾病分离的基因座 并通过全基因组筛查来确定这些基因座是否已知 或者是最新确认的。进一步的研究将确定新的基因座和/或确定 受影响基因中的特定突变。如果突变是新的 实验被用来检验假设的有效性，即 突变是导致ADC的原因，通过确定突变是否会导致 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.