PROBABLE GENETIC LINKAGE BETWEEN AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA (RP) AND AMYLASE (AMY2) - EVIDENCE OF AN RP LOCUS ON CHROMOSOME 1

  • 1 January 1977
    • journal article
    • research article
    • Vol. 29 (4), 397-404
Abstract
A linkage analysis is reported for 3 branches of a single family segregating for autosomal dominant retinitis pigmentosa [RP]. 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 was placed on the short arm of 1. Lod scores are reported for 4 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.