Ramirez Christina J, Krug Melissa, Zahand Adam, Sundin Kyle, Shaffer Lisa G, Ballif Blake C
Genetic Veterinary Sciences Inc., Paw Print Genetics, Spokane, WA.
J Vet Diagn Invest. 2019 Mar;31(2):276-279. doi: 10.1177/1040638718825281. Epub 2019 Jan 19.
Canine inherited factor VII deficiency is a mild-to-moderate, inherited coagulopathy that affects several breeds of dog. We identified 2 polymorphisms near the disease-causing F7 gene mutation, one of which interfered with testing in several Beagles by causing allele dropout of the normal, wild-type allele. In the absence of an external proficiency program among veterinary genetic testing laboratories, implementation of an internal proficiency program, which requires 2 independent methods for genotyping dogs at any given locus, was further enhanced by ensuring minimally non-overlapping primer pairs between the 2 assays. After redesign of our clinical tests, all dogs were re-examined, and the correct genotypes were identified. These changes ensure higher accuracy in future testing of the F7 mutation.
犬遗传性因子 VII 缺乏症是一种影响多个犬种的轻至中度遗传性凝血病。我们在致病的 F7 基因突变附近鉴定出 2 个多态性位点,其中一个通过导致正常野生型等位基因的等位基因脱失,干扰了几只比格犬的检测。在兽医基因检测实验室之间缺乏外部能力验证计划的情况下,通过确保两种检测方法之间的引物对最小程度地重叠,进一步加强了内部能力验证计划的实施,该计划要求在任何给定基因座对犬进行基因分型时采用 2 种独立方法。重新设计我们的临床试验后,对所有犬进行了重新检测,并确定了正确的基因型。这些改变确保了未来 F7 基因突变检测的更高准确性。