DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASES

描述（改编自申请人的摘要）：这两年的目标 下一步是定位和克隆常染色体显性遗传相关基因 视网膜色素变性（adRP）。目前，超过250个家庭与adRP 作为系统连锁和突变分析的一部分进行了分析。 已确定了15个适合连锁分析的大家庭。没有一 这些家族中的大多数在已知的RP相关基因中有突变。连锁分析 将进行突变筛选以绘制和表征这些新的adRP 家庭该项目的完成将有助于划分类型， 在一个大的和不同的样本中， 美国人对RP的分子原因的更全面的了解可能 促进这种疾病的新疗法的发展。

DESCRIPTION (Adapted from the applicant's abstract): The goal of this two-year continuation is to map and clone genes associated with autosomal dominant forms of retinitis pigmentosa (adRP). At present, more than 250 families with adRP have been analyzed as part of a systematic linkage and mutation analysis. Fifteen large families suitable for linkage analysis have been identified. None of these families have mutations in known RP-associated genes. Linkage analysis and mutation screens will be carried out to map and characterize these new adRP families. Completion of this project will help to delineate the types and prevalence of mutations that lead to adRP in a large and diverse sample of Americans. A more complete understanding of the molecular causes of RP may foster the development of novel therapies for this disease.