A von Willebrand's factor genomic nucleotide variant and polymerase chain reaction diagnostic test associated with inheritable type-2 von Willebrand's disease in a line of German Shorthaired Pointer dogs
A von Willebrand's factor genomic nucleotide variant and polymerase chain reaction diagnostic test associated with inheritable type-2 von Willebrand's disease in a line of German Shorthaired Pointer dogs
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DOI：
10.1354/vp.41-3-221
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发表时间：
2004-05-01
影响因子：
2.4
通讯作者：
Yuzbasiyan-Gurkan, V
中科院分区：
文献类型：
--
作者：
Kramer, JW;Venta, PJ;Yuzbasiyan-Gurkan, V
在德国短毛指示犬（GSPs）中研究了可遗传的2型血管性血友病（vWD），其中一些成员的血管性血友病因子（VWF）基因外显子28有核苷酸变异。开发了核苷酸变异的聚合酶链反应（PCR）诊断试验，以确定该疾病的遗传模式并将其从系中消除。研究人员对49只GSP犬中的36只、14只不相关的GSP对照犬和71只不同品种的不相关犬进行了变异核苷酸检测。所有vWF抗原缺失犬（<正常犬的70%）的核苷酸变异要么为纯合子，要么为杂合子。该变异未出现在任何vWF抗原值大于68%的系内或系外犬中。在测试的GSPs中，2个是纯合的，15个是杂合的，19个是无变异的。这一研究和其他研究的集体证据与变异核苷酸是导致GSPs和德国专线指针2型vWD的原因一致。利用变异核苷酸的PCR诊断试验，成功筛选出无变异和无vWD的子代。这个测试应该是有效的，在随后的消除从其他系的狗相同的变异。
Heritable, type-2 von Willebrand's disease (vWD) was studied in a line of German Shorthaired Pointers (GSPs) in which some members had a nucleotide variant in exon 28 of the von Willebrand factor (VWF) gene. A polymerase chain reaction (PCR) diagnostic test for the nucleotide variant was developed to establish the disorder's mode of inheritance and to eliminate it from the line. Thirty-six of the 49 GSPs in the line, 14 unrelated GSP controls, and 71 unrelated dogs of various breeds were tested for the presence of the variant nucleotide. All the dogs with a vWF antigen deficiency ( < 70% of normal) were either homozygous or heterozygous for the nucleotide variant. The variant was not located in any tested dog in the line or outside of the line with a vWF antigen value greater than 68%. Of the GSPs in the line tested, two were homozygous for the variant, 15 were heterozygous, and 19 were variant free. The collective evidence of this and other studies is consistent with the variant nucleotide being the cause of the type-2 vWD in this line of GSPs and German Wirehaired Pointers. The PCR diagnostic test for the variant nucleotide was successfully used to select and produce progeny that were variant free and vWD free. This test should be effective in the subsequent elimination of this same variant from other lines of dogs.