Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs.

ABSTRACT:

Background

Generalized progressive retinal atrophy (gPRA) is a hereditary ocular disorder with progressive photoreceptor degeneration in dogs. Four retina-specific genes, ATP binding cassette transporter retina (ABCA4), connexin 36 (CX36), c-mer tyrosin kinase receptor (MERTK) and photoreceptor cell retinol dehydrogenase (RDH12) were investigated in order to identify mutations leading to autosomal recessive (ar) gPRA in 29 breeds of dogs.

Results

Mutation screening was performed initially by PCR and single strand conformation polymorphism (SSCP) analysis, representing a simple method with comparatively high reliability for identification of sequence variations in many samples. Conspicuous banding patterns were analyzed via sequence analyses in order to detect the underlying

SUBMITTER: Lippmann T 

PROVIDER: S-EPMC1716180 | biostudies-literature | 2006 Nov

REPOSITORIES: biostudies-literature