AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration.

ABSTRACT:

Purpose

To localize and identify the gene and mutations causing autosomal recessive retinal dystrophy in two consanguineous Pakistani families.

Methods

Consanguineous families from Pakistan were ascertained to be affected with autosomal recessive retinal degeneration. All affected individuals underwent thorough ophthalmologic examinations. Blood samples were collected, and genomic DNA was extracted using a salting out procedure. Genotyping was performed using microsatellite markers spaced at approximately 10 cM intervals. Two-point linkage analysis was performed with the lod score method. Direct DNA sequencing of amplified genomic DNA was performed for mutation screening of candidate genes.

Results

Genome-wide linkage scans yielded a lod score of 3.05 at θ=0 for D17S1

SUBMITTER: Li D 

PROVIDER: S-EPMC3888496 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature