Genetic investigation of the genes responsible for hereditary disorders of Japanese Black cattle and its functional analysis

我们试图找出导致日本黑牛遗传疾病的基因，并开发基因诊断系统来检测突变。因此，我们揭示了GFRA1基因的无义突变是导致前肢带肌肉异常的原因，并通过PCR-RFLP方法开发了这种疾病的遗传诊断系统。对于其他疾病，包括下颌短和肾脏发育不全，我们收集了受影响动物的样本，并使用这些样本进行连锁分析。结果，短下颌骨和肾脏发育不全的基因座被定位在牛染色体的一个特定区域。这些发现可用于开发该疾病的遗传诊断系统。

We have attempted to identify the gene responsible for hereditary disorders of Japanese Black cattle and develop the genetic diagnosis systems to detect the mutations. Consequently, we have revealed that a nonsense mutation of the GFRA1 gene is responsible for forelimb-girdle muscular anomaly and developed the genetic diagnosis systems for this disorder by PCR-RFLP method. For other disorders including short mandible and renal agenesis, we have collected samples of affected animals and performed linkage analysis using these samples. As a result, the locus for short mandible and renal agenesis was mapped on a particular region of bovine chromosome. These finding can be used to develop genetic diagnosis system for this disorder.