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Hormone receptor type 2 antimüllerian gene role in dogs with Persistent Müllerian Ducts Syndrome

机译:激素受体2型抗苗勒勒基因在患有持久苗勒管综合征的犬中的作用

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Persistent Müllerian Ducts Syndrome (PMDS) is a congenital disease, characterized by thepresence of Müllerian duct derivatives in genetically defined males. Our aim was to identify DNAmutations that may lead to this disease in Basset Hound male dogs. Six males (one healthy control)aged 1–8 years were examined by ultrasound; exploratory laparotomy was used for PMDSconfirmation in dogs detected as PMDS positive following ultrasound examination. Surgical treatmentwas performed for resection of uterine horns rudiments. Two dogs were found to be PMDS-positive.Possible DNA mutations in the 11 exons of the hormone receptor type 2 antimüllerian (AMHR2) genewere analyzed by polymerase chain reaction (PCR) followed by DNA sequencing. All exons of AMHR2gene appeared wild-type, unmodified, suggesting that AMHR2 gene mutations may not be present inBasses Hound male dogs with PMDS. These findings suggest that another gene mutation (e.g. AMH)may be involved in PMDS occurrence in Basset Hound breed and we are currently investigating thisalternative direction.
机译:持续性苗勒氏管综合症(PMDS)是一种先天性疾病,其特征是在遗传定义的男性中存在苗勒氏管衍生物。我们的目的是鉴定可能在巴塞特猎犬公犬中导致这种疾病的DNA突变。超声检查了六名年龄在1至8岁之间的男性(一个健康对照)。超声检查后,探查性剖腹术用于PMDS确认的狗为PMDS阳性。进行手术治疗以切除子宫角残角。发现两只狗的PMDS阳性。通过聚合酶链反应(PCR)然后进行DNA测序,分析了2型激素受体(AMHR2)激素受体的11个外显子中可能的DNA突变。 AMHR2基因的所有外显子均显示为野生型,未经修饰,这表明在带有PMDS的Basses Hound公犬中AMHR2基因突变可能不存在。这些发现表明,巴塞特猎犬品种中PMDS的发生可能与另一个基因突变(例如AMH)有关,我们目前正在研究这种替代方向。

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