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Being gene diagnostics in order to diagnose the Claudin-16 deficiency symptom

机译:正在进行基因诊断以诊断Claudin-16缺乏症

摘要

PROBLEM TO BE SOLVED: To provide a method for diagnosing bovine Claudin-16 deficiency disease type 2.;SOLUTION: It was found that bovine Claudin-16 deficiency disease type 2 is caused by a DNA deficiency as large as about 56 kb including a part of Claudin-16 gene. The disease is gene diagnosed, for example, by the presence or absence of the amplification of a region including the gene by using specific PCR primers depending on the deficiency. The diagnosis is carried out concretely by specifically amplifying a surrounding region of a gene of interest followed by detecting any deficiency. This method permits simply and rapidly detecting and diagnosing bovine Claudin-16 deficiency disease type 2 and a carrier thereof.;COPYRIGHT: (C)2002,JPO
机译:解决的问题:提供一种诊断牛2型克劳丁16缺乏症的方法;解决方案:发现牛2型克劳丁16缺乏症的原因是DNA缺失引起的,该DNA缺失约56 kb,包括一部分克劳丁16基因的表达。通过例如根据缺陷通过使用特异性PCR引物通过包括该基因的区域的扩增的存在与否来诊断疾病。具体地,通过特异性扩增目的基因的周围区域然后检测任何缺陷来进行诊断。这种方法可以简便,快速地检测和诊断2型牛Claudin-16缺乏症及其携带者。;版权:(C)2002,JPO

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