Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.

ABSTRACT:

Purpose

To identify the disease-causing genes in families with autosomal recessive RP (ARRP).

Methods

Families were screened for homozygosity at candidate gene loci followed by screening of the selected gene for pathogenic mutations if homozygosity was present at a given locus. A total of 34 families were included, of which 24 were consanguineous. Twenty-three genes were selected for screening. The presence of homozygosity was assessed by genotyping flanking microsatellite markers at each locus in affected individuals. Mutations were detected by sequencing of coding regions of genes. Sequence changes were tested for presence in 100 or more unrelated normal control subjects and for cosegregation in family members.

Results

Homozygosity was detected at one or more loci i

SUBMITTER: Singh HP 

PROVIDER: S-EPMC2777646 | biostudies-literature | 2009 Sep

REPOSITORIES: biostudies-literature