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

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

机译:诊断哺乳动物前肢肌腱异常的标记物,以及使用该标记物的检测方法

摘要

The present invention uses an isolated polynucleotidehaving a part or whole of GFRA1 gene, mutant GFRA1 protein,and mRNA encoding the mutant GFRA1 protein, each of whichincludes a loss-of-function mutation of GFRA1, as markers fordiagnosing an animal as affected by forelimb-girdle muscularanomaly or as a carrier of forelimb-girdle muscular anomaly.In addition, an isolated polynucleotide comprising one ormore selected from the group consisting of MOK2630, MOK2637,SNP B, and SNP D can be used as markers for diagnosingwhether a bovine animal is affected by forelimb-girdlemuscular anomaly or whether a bovine animal is a carrier offorelimb-girdle muscular anomaly.
机译:本发明使用分离的多核苷酸具有部分或全部GFRA1基因,突变GFRA1蛋白,和编码突变型GFRA1蛋白的mRNA,包括GFRA1的功能丧失突变,作为诊断受前腹带肌肉影响的动物异常或作为前腰带肌肉异常的载体。另外,分离的多核苷酸包含一个或多个从MOK2630,MOK2637,SNP B和SNP D可用作诊断的标记牛是否受前肢带影响肌肉异常或牛是否为牛的携带者前腹带肌肉异常。

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