Exclusion of the autosomal dominant retinitis pigmentosa gene from a substantial region of chromosome 1: Study of a large Australian family

Abstract

In an attempt to map the gene(s) responsible for autosomal dominant retinitis pigmentosa (ADRP), the technique of reverse genetics was used on a large multigenerational Australian pedigree. The family demonstrated a form of the disease which appears to be less severe than that observed in the Irish pedigree. It was typed for 10 restriction fragment length polymorphism (RFLP) markers on chromosome 1. The data from the linkage study was analysed using the programs LIPED 3; six markers gave informative results. The ADRP gene was excluded from this family from 102 cM using previously prepared chromosome 1 maps. This accounts for 36% of chromosome 1 which is estimated to be the longest human chromosome.