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

J Med Genet. 1995 Nov;32(11):915-6. doi: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19 / genetics*
  • Female
  • Genes, Dominant*
  • Humans
  • Japan
  • Lod Score
  • Male
  • Pedigree
  • Retinitis Pigmentosa / genetics*