MOLECULAR GENETICS OF CORNEAL DYSTROPHIES

描述（改编自申请人摘要）：分子基础 三种类型的遗传性角膜疾病的检查， 定位并分离致病基因。 本申请 建立在强有力的初步数据，包括遗传联系， 三种临床上不同的常染色体显性角膜营养不良， 5号染色体长臂和后多态性连锁 角膜营养不良与20号染色体长臂的关系 具体目标 是（1）使用位置候选和位置克隆策略， 鉴定Avelino、颗粒状和格子状角膜相关基因 营养不良;（2）在家族中进行全基因组连锁搜索 受Fuch角膜营养不良影响;（3）完善遗传 染色体20 q上的间隔，包含后部多态性 营养不良基因座，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.