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.
Abstract
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.
摘要
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。
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本文引用的文献
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A case of persistent Müllerian duct syndrome with sertoli cell tumor and hydrometra in a dog.一例患有支持细胞瘤和子宫积水的犬持续性苗勒管综合征病例。
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2
Persistent Mullerian duct syndrome in a Miniature Schnauzer dog with signs of feminization and a Sertoli cell tumour.一只患有雌性化体征和支持细胞瘤的迷你雪纳瑞犬的持续性苗勒管综合征
Reprod Domest Anim. 2010 Jun;45(3):447-52. doi: 10.1111/j.1439-0531.2008.01223.x. Epub 2008 Oct 10.
3
A single base pair mutation encoding a premature stop codon in the MIS type II receptor is responsible for canine persistent Müllerian duct syndrome.编码苗勒管抑制物质II型受体中一个过早终止密码子的单碱基对突变是犬持续性苗勒管综合征的病因。
J Androl. 2009 Jan-Feb;30(1):46-56. doi: 10.2164/jandrol.108.005736. Epub 2008 Aug 21.
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Persistent Müllerian duct syndrome in miniature schnauzers.迷你雪纳瑞犬的持续性苗勒管综合征
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Müllerian inhibiting substance is present in testes of dogs with persistent müllerian duct syndrome.苗勒管抑制物质存在于患有持续性苗勒管综合征的犬类睾丸中。
Biol Reprod. 1989 Nov;41(5):881-8. doi: 10.1095/biolreprod41.5.881.
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