Chediak-Higashi syndrome (CHS) is an autosomal recessive hereditary disorder in Japanese Black cattle, caused by a mutation of the Lyst gene. So far, the mutation has been detected by PCR-restriction fragment length polymorphism (PCR-RFLP) analysis. However, this method is disadvantaged by its low-throughput performance. Here, we report an alternative method involving real-time PCR with TaqMan minor groove binder probes, which shortens the total assay time by more than 120 min, analyzing 10 samples in a duplicated manner. Using this method, we examined 102 Japanese Black cattle and found that 8.8% of the cattle were CHS-carriers. These data indicate that our technique is useful for routine diagnostic testing for CHS in Japanese Black cattle.
Chediak - Higashi syndrome ( CHS ) is an autosomal recessive hereditary disorder in Japanese Black cattle , caused by a mutation of the Lyst gene . So far , the mutation has been detected by PCR - restriction fragment length polymorphism ( PCR - RFLP ) analysis . However , this method is disadvantaged by its low - throughput performance . Here , we report an alternative method involving real - time PCR with TaqMan minor groove binder probes , which shortens the total assay time by more than 120 min , analyzing 10 samples in a duplicated manner . Using this method , we examined 102 Japanese Black cattle and found that 8.8 % of the cattle were CHS - carriers . These data indicate that our technique is useful for routine diagnostic testing for CHS in Japanese Black cattle .
Which mutated gene causes the Chédiak–Higashi Syndrome?
Which mutated gene causes the Chédiak – Higashi Syndrome ?
LYST gene
lysosomal trafficking regulator gene LYST gene