Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1

Am J Hum Genet. 1977 Jul;29(4):397-404.

Abstract

A linkage analysis is reported for three branches of a single family segregating for autosomal dominant retinitis pigmentosa. A statistically significant lod score of 3.9 is obtained for the RP locus and AMY2 at a recombination frequency of 1%. This linkage indicates that the RP locus is on the no. 1 chromosome since the AMY2 locus has been placed on the short arm of 1. Lod scores are reported for four other loci on chromosome 1; none of these achieve statistical significance. Analyses are reported for 23 additional autosomal markers and close linkage with RP can be excluded for a number of these.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amylases / blood*
  • Chromosome Mapping*
  • Chromosomes, Human, 1-3*
  • Female
  • Genes, Dominant
  • Genetic Linkage*
  • Humans
  • Male
  • Pedigree
  • Probability
  • Recombination, Genetic
  • Retinitis Pigmentosa / genetics*

Substances

  • Amylases