DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASES

描述(摘自申请者的摘要)：本两年制的目标 继续是定位和克隆与常染色体显性形式相关的基因 视网膜色素变性(ADRP)。目前，已有250多个ADRP家庭 作为系统连锁和突变分析的一部分进行了分析。 已鉴定出15个适合连锁分析的大家系。无 这些家族中有已知的RP相关基因突变。连锁分析 并将进行突变筛选，以绘制和表征这些新的ADRP 家人。该项目的完成将有助于划定类型和 导致ADRP的突变在大而多样的样本中的流行率 美国人。对RP的分子病因的更完整的理解可能 促进这种疾病的新疗法的开发。

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.