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犬因子VII缺乏症:在基于方法的实验室能力验证中获得的经验教训。

Canine factor VII deficiency: lessons learned in applying methods-based laboratory proficiency testing.

作者信息

Ramirez Christina J, Krug Melissa, Zahand Adam, Sundin Kyle, Shaffer Lisa G, Ballif Blake C

机构信息

Genetic Veterinary Sciences Inc., Paw Print Genetics, Spokane, WA.

出版信息

J Vet Diagn Invest. 2019 Mar;31(2):276-279. doi: 10.1177/1040638718825281. Epub 2019 Jan 19.

Abstract

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.

摘要

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。

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引用本文的文献

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Investigation of a common canine factor VII deficiency variant in dogs with unexplained bleeding on autopsy.
J Vet Diagn Invest. 2022 Sep;34(5):806-812. doi: 10.1177/10406387221118581. Epub 2022 Aug 10.
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