MOLECULAR GENETICS OF CORNEAL DYSTROPHIES

描述(改编自申请人的摘要)：分子碱基 三类遗传性角膜疾病的检查将由 定位和分离致病基因。此应用程序 建立在强大的初步数据基础上，包括 三例临床上不同的常染色体显性遗传性角膜营养不良 5号染色体长臂与后位多态连锁 20号染色体长臂的角膜营养不良。 要(1)使用职位候选人和职位克隆策略 确定Avelino、颗粒状和晶格状角膜的相关基因 营养不良；(2)在全基因组范围内搜索家系中的连锁 受Fuchs角膜营养不良影响；以及(3)完善基因 染色体20Q上包含后部多态的区间 并使用位置候选策略来搜索 致病基因。

DESCRIPTION (Adapted from applicant's abstract): The molecular bases of three classes of inherited corneal disease are to be examined by locating and isolating the disease-causing genes. This application builds upon strong preliminary data including the genetic linkage of three clinically distinct autosomal dominant corneal dystrophies to the long arm of chromosome 5 and the linkage of posterior polymorphous corneal dystrophy to the long arm of chromosome 20. The specific aims are to (1) use position candidate and positional cloning strategies to identify the gene involved in Avelino, granular and lattice corneal dystrophies; (2) perform a genome-wide search for linkage in families affected with Fuch's corneal dystrophy; and (3) refine the genetic interval on chromosome 20q that contains the posterior polymorphous dystrophy locus and use the positional candidate strategy to search for the disease-causing gene.