Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.

ABSTRACT:

Objective

To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa in 5 consanguineous Pakistani families.

Methods

Affected individuals in the families underwent a detailed ophthalmological examination that consisted of fundus photography and electroretinography. Blood samples were collected from all participating family members, and genomic DNA was extracted. A genome-wide linkage scan was performed, followed by exclusion analyses among our cohort of nuclear consanguineous families with microsatellite markers spanning the TULP1 locus on chromosome 6p. Two-point logarithm of odds scores were calculated, and all coding exons of TULP1 were sequenced bidirectionally.

Results

The results of ophthalmological examinations among affected indi

SUBMITTER: Iqbal M 

PROVIDER: S-EPMC3463811 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature