A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.

ABSTRACT:

Purpose

To describe the clinical and genetic findings in a Chinese family with autosomal dominant cone dystrophy (adCOD).

Methods

One family was examined clinically, and genomic DNA was extracted from venous blood of all participants. Genotyping and haplotyping analysis was performed on the known genetic loci for adCOD and autosomal dominant cone-rod dystrophies (adCORD) with a panel of polymorphic markers in this family. All coding exons of the AIPL1, PTTPNM3, and GUCY2D gene were directly sequenced. Allele-specific PCR was used to validate a substitution in all available family members and 100 normal controls. Bioinformatics analysis was done using the Garnier-Osguthorpe-Robson method to predict the effect of the variants detected on the secondary structure of the GUCY2D p

SUBMITTER: Zhao X 

PROVIDER: S-EPMC3668702 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature