Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family.
Open Access
- 1 November 1995
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (11) , 915-916
- https://doi.org/10.1136/jmg.32.11.915
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.Keywords
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