Identification of a Locus, Distinct From RDS-Peripherin, for
Autosomal Recessive Retinitis Pigmentosa on Chromosome 6p
J.A. Knowles, Y. Shugart, P. Banerjee, T.C. Gilliam,
C.A. Lewis, S.G. Jacobson, J. Ott
Human Molecular Genetics , 3(8), 1401--1403 (1994 Aug)
Abstract
We performed a genomic search for linkage to autosomal recessive
retinitis pigmentosa in a large pedigree obtained from the Dominican
Republic using microsatellite markers. Regions of the genome known
to contain genes for retinitis pigmentosa were preferentially
tested. One of these regions, on chromosome 6p, which contains the
gene for peripherin, gave positive lod scores. Use of a
mononucleotide repeat polymorphism in the peripherin gene excluded
this locus. Two- and multi-point analyses suggest that the most
likely location for the disease gene is near D6S291, which is
located approximately 20 centimorgans telomeric from peripherin.
