Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family

Abstract

A large four generation Japanese family was studied, in which autosomal dominant retinitis pigmentosa (ADRP) of very variable expression was segregating. Positive lod scores with maxima between 1P557-5 118 at θ = 0 00, strongly suggestive of linkage, were obtained for KLK, D19S180, D19S418, and D19S254 on chromosome 19q. Recently, an ADRP locus has been mapped to the same region in a British family, in which, again, several members subjectively had no clinical evidence of the disease although they had both an affected parent and an affected child.