Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.

ABSTRACT:

Purpose

To screen for possible disease-causing mutations in rhodopsin (RHO), pre-mRNA processing factor 31 (PRPF31), retinitis pigmentosa 1 (RP1), and inosine monophosphate dehydrogenase 1 (IMPDH1) genes in Indian patients with isolated and autosomal dominant forms of retinitis pigmentosa (adRP). Information on such data is not available in India and hence this study was undertaken.

Methods

Blood samples were obtained from 48 isolated and 53 adRP patients, who were recruited for the study. Each patient underwent a detailed clinical examination. Genomic DNA was extracted from the blood samples and screened for mutations in four genes using an ABI3100 Avant genetic analyzer. Reverse transcriptase polymerase chain reaction was performed to amplify the mutated (IVS6+1G/A) mRNA o

SUBMITTER: Gandra M 

PROVIDER: S-EPMC2426732 | biostudies-literature | 2008 Jun

REPOSITORIES: biostudies-literature