Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.

ABSTRACT:

Objective

To identify the causative mutations in two Chinese families with retinitis pigmentosa (RP), and to describe the associated phenotype.

Methods

Individuals from two unrelated families underwent full ophthalmic examinations. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Linkage analysis was performed on the known genetic loci for autosomal dominant retinitis pigmentosa with a panel of polymorphic markers in the two families, and then all coding exons of the PRP31 premessenger ribonucleic acid processing factor 31 homolog (PRPF31) gene were screened for mutations with direct sequencing of PCR-amplified DNA fragments. Allele-specific PCR was used to validate a substitution in all available family members and 10

SUBMITTER: Dong B 

PROVIDER: S-EPMC3850970 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature