Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family. Issue 11 (November 1995)

• Record Type: Journal Article
• Authors: Xu, S; Nakazawa, M; Tamai, M; Gal, A
• Is Part Of: Journal of medical genetics. Volume 32:Issue 11(1995)
• Page Start: 915
• Page End: 916
• Publication Date: 1995-11
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.32.11.915
• Languages: English
• ISSNs: 1468-6244

Abstract

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 1.557-5.118 at theta = 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.