首页> 外国专利> MARKER FOR DIAGNOSING FORELIMB-GIRDLE MUSCULAR ANOMALY IN MAMMAL INDIVIDUAL, AND DETECTION METHOD USING SAME

MARKER FOR DIAGNOSING FORELIMB-GIRDLE MUSCULAR ANOMALY IN MAMMAL INDIVIDUAL, AND DETECTION METHOD USING SAME

机译:诊断哺乳动物个体前肢肌腱异常的标记物,以及使用该方法的检测方法

摘要

The present invention uses an isolated polynucleotide having a part or whole of GFRA1 gene, mutant GFRA1 protein, and mRNA encoding the mutant GFRA1 protein, each of which includes a loss-of-function mutation of GFRA1, as markers for diagnosing an animal as affected by forelimb-girdle muscular anomaly or as a carrier of forelimb-girdle muscular anomaly. In addition, an isolated polynucleotide comprising one or more selected from the group consisting of MOK2630, MOK2637, SNP B, and SNP D can be used as markers for diagnosing whether a bovine animal is affected by forelimb-girdle muscular anomaly or whether a bovine animal is a carrier of forelimb-girdle muscular anomaly.
机译:本发明使用具有部分或全部GFRA1基因,突变体GFRA1蛋白以及编码突变体GFRA1蛋白的mRNA的分离的多核苷酸作为诊断动物患病的标志物,其中每一个都包括GFRA1的功能丧失突变。通过前腹带肌肉异常或作为前腹带肌肉异常的载体。另外,包含选自MOK2630,MOK2637,SNP B和SNP D的一种或多种的分离的多核苷酸可以用作诊断牛动物是否受到前腹带肌肉异常或牛动物影响的标志物。是前腹带肌肉异常的载体。

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