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A tool set to allow rapid screening of dog families with PRA for association with candidate genes
Author(s) -
Winkler Paige A.,
Davis Jennifer A.,
PetersenJones Simon M.,
Venta Patrick J.,
Bartoe Joshua T.
Publication year - 2017
Publication title -
veterinary ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.594
H-Index - 50
eISSN - 1463-5224
pISSN - 1463-5216
DOI - 10.1111/vop.12401
Subject(s) - candidate gene , genetics , biology , loss of heterozygosity , gene , mutation , microsatellite , pedigree chart , allele
Objective To develop a method to rapidly screen candidate genes for association with recessively inherited progressive retinal atrophy ( PRA ) in pedigrees of dog in which a causative mutation has not been identified. Animal studied Thirteen PRA ‐affected dogs were used in this study. Procedures Two microsatellite markers ( MS ) were designed flanking 45 candidate genes. MS markers were analyzed for heterozygosity and allelic richness. Two dog breeds, in which the causative mutation has been identified (Entlebucher Sennenhunds [ ES ] and PDE 6A ‐mutant dogs [ PDE 6A]), were used to validate the MS marker panel. One breed in which the causative mutation is currently unknown (Old English Sheepdog [ OES ]) was investigated in this study utilizing the MS panel. Results Marker heterozygosity excluded 38 of 45 and 41 of 45 candidate genes ( ES and PDE 6A, respectively) with each true culprit gene remaining on the list of nonexcluded candidate genes. Additionally, 41 of 45 genes were excluded for OES . Conclusions This tool set was used quickly and efficiently to narrow down 45 candidate genes for recessively inherited PRA in two types of dogs with known mutations and one type of dog with an unknown mutation.