用于迷你雪纳瑞犬持续性 Müllerian 管发育不全综合征的分子诊断测试。
A molecular diagnostic test for persistent Müllerian duct syndrome in miniature schnauzer dogs.
机构信息
Baker Institute for Animal Health, Cornell University, College of Veterinary Medicine, Ithaca, N.Y., USA.
出版信息
Sex Dev. 2009;3(6):326-8. doi: 10.1159/000273264. Epub 2009 Dec 30.
In persistent Müllerian duct syndrome (PMDS), Müllerian ducts fail to regress in males during sexual differentiation. In the canine miniature schnauzer model, PMDS is caused by a C to T transition in exon 3 of the Müllerian inhibiting substance type II receptor (MISRII), which introduces a DdeI restriction site. Here we report a molecular diagnostic test for PMDS in the miniature schnauzer to identify affected dogs and carriers. As our test results suggest that the mutation is identical by descent in affected dogs of this breed, the test could be used to eliminate this mutation from the miniature schnauzer breed worldwide.
在持续性 Müller 氏管发育不全综合征（PMDS）中，雄性在性分化过程中 Müller 氏管未能退化。在犬类小型雪纳瑞模型中，PMDS 是由 Müller 氏抑制物质 II 型受体（MISRII）第 3 外显子中的 C 到 T 转换引起的，该转换引入了一个 DdeI 限制位点。在这里，我们报告了一种用于小型雪纳瑞 PMDS 的分子诊断测试，以识别受影响的狗和携带者。由于我们的测试结果表明该突变在该品种的受影响狗中是相同的，因此该测试可用于在全球范围内消除小型雪纳瑞品种中的这种突变。
Zotero 插件