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Possible Assignment of a Dominant Retinitis pigmentosa Gene to Chromosome 1

作者:John R. Heckenlively, Pearlman Jt, Sparkes Rs, MA Spence, D Zedalis, Leigh Field, M.C. Sparkes, Michol Crist, Susan Tideman · 发表于:Ophthalmic Research · 年份:2009 · DOI:10.1159/000265173 · 被引用次数:17 · 研究领域:Retinal Development and Disorders、Advanced biosensing and bioanalysis techniques、Ocular Disorders and Treatments

A genetic linkage study, performed on a large family with autosomal dominant retinitis pigmentosa (RP), demonstrated that the RP gene may be linked to the Rh locus, known to be on the short arm of human chromosome 1. Linkage studies on RP along with other studies, can help to more accurately classify these disease entities. Localizing the RP gene locus has the potential for allowing the early diagnosis of individuals at risk.