CANDIDATE GENE STUDY OF INHERITED RETINAL DEGENERATIONS

描述（改编自研究者摘要）：视网膜色素变性（RP） 以及相关的视网膜变性是视力下降的主要原因， 失明，影响了美国估计50，000至100，000人 States.有证据表明，至少有44个基因引起非综合征型RP，Usher 综合征（RP和耳聋）或Bardet-Biedl综合征（RP，肥胖，多指， 身材矮小等）其中21个已通过连锁研究绘制。而 调查人员仍不确定占病例的比例 因为通过一些已鉴定的基因，似乎很明显， RP的病例是由于未鉴定的基因。大约50个额外的基因导致 相关的视网膜疾病，如黄斑变性，静止夜 失明等;这些基因中大约有一半还没有被确认。的PI 建议继续寻找引起RP和相关疾病的基因。的 一种方法开始于基于例如以下选择候选基因： 它们在视网膜生理学中的已知作用， 同源物是低等动物视网膜疾病的已知原因， 视网膜特异性表达模式，或者由于它们在 基于谱系分析已知含有未鉴定的RP基因座的区域。的 候选基因将被分析， RP或相关疾病。如果成功，这项研究将确定 引起RP和相关疾病的其他基因。基因 鉴定具有潜在的临床益处。他们可以预测 值，因为特定突变和严重性之间存在相关性， 视力丧失它们可以对治疗产生影响，因为将 一组导致RP和相关视网膜疾病的基因缺陷将有助于 了解有缺陷的生物化学途径， 知道可能会开发出显示、阻止或逆转这些疾病的药物， 致盲疾病

DESCRIPTION (Adapted from investigator's abstract): Retinitis pigmentosa (RP) and related retinal degenerations are a major cause of reduced vision an blindness, affecting an estimated 50,000 to 100,000 individuals in the United States. There is evidence for at least 44 genes causing nonsyndromic RP, Usher syndrome (RP and deafness), or Bardet-Biedl syndrome (RP, obesity, polydactyly, short stature, et al.) Of these, 21 have been mapped by linkage studies. While the investigator is still uncertain about the proportions of cases accounted for by some of the identified genes, it seems clear that about half of all cases of RP are due to unidentified genes. About 50 additional genes cause allied retinal diseases, such as macular degeneration, stationary night blindness, etc.; about half of these genes are still unidentified. The PI proposes to continue the search for genes causing RP and allied diseases. The approach begins by the selection of candidate genes based, for example, on their known role in the physiology of the retina, on the fact that their homologues are known causes of retinal disease in lower animals, on their retina-specific pattern of expression, or because of their locations within regions known to contain unidentified RP loci based on linage analyses. The candidate genes will be analyzed for potential mutations in patients afflicted with RP or a related disease. If successful, this research will identify additional genes causing forms of RP and allied diseases. The gene identifications have potential clinical benefits. They can have prognostic value, since there are correlations between specific mutations and the severity of visual loss. They can have implications for therapy, since cataloguing the set of gene defects that cause RP and related retinal disease will help in understanding the defective biochemical pathways, and it is through that knowledge that agents might be developed that show, stop, or reverse these blinding diseases.