Marker for diagnosing forelimb-girdle muscular anomaly in mammal individual, and detection method using same

摘要

In the present invention, an isolated polynucleotide having a part or the whole of GFRA1 gene, a mutant GFRA1 protein or mRNA encoding mutant GFRA1 protein, each of which contain a GFRA1 function-deficient mutation, is used as a marker for diagnosing as to whether or not an individual is suffering from forelimb-girdle muscular anomaly or whether or not an individual is a carrier of forelimb-girdle muscular anomaly. An isolated polynucleotide containing at least one selected from the group consisting of MOK2630, MOK2637, SNP B and SNP D can be used as a marker for diagnosing as to whether or not a cow individual is suffering from forelimb-girdle muscular anomaly or whether or not a cow individual is a carrier of forelimb-girdle muscular anomaly.