Genetic Mutations for PRA are different between Labs & Golde

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Genetic Mutations for PRA are different between Labs & Golde

Postby Doc E » Sat May 17, 2014 12:45 pm

PRA in Labs is seemingly a single autosomal recessive mutation.
However, in Goldens, it seems much more complex.

A genome-wide association study of 10 PRA cases and 16 controls identified an association on chromosome 8 not previously associated with PRA (praw = 1.30×10-6 and corrected with 100,000 permutations, pgenome = 0.148). Using haplotype analysis we defined a 737 kb critical region containing 6 genes. Two of the genes (TTC8 and SPATA7) have been associated with Retinitis Pigmentosa (RP) in humans. Using targeted next generation sequencing a single nucleotide deletion was identified in exon 8 of the TTC8 gene of affected Golden Retrievers. The frame shift mutation was predicted to cause a premature termination codon. In a larger cohort, this mutation, TTC8c.669delA, segregates correctly in 22 out of 29 cases tested (75.9%). Of the PRA controls none are homozygous for the mutation, only 3.5% carry the mutation and 96.5% are homozygous wildtype.

Entire article is here : http://www.cgejournal.org/content/1/1/4

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