title: A new method for rapid detection of the mutant allele for Chediak-Higashi syndrome in Japanese black cattle.
abstract: 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.
authors.affiliation: Department of Veterinary Pharmacology, Faculty of Agriculture, University of Miyazaki, Miyazaki 889-2192, Japan.
authors.forename: Ahmed
authors.initials: A
authors.lastname: Abdeen
authors.forename: Hiroko
authors.initials: H
authors.lastname: Sonoda
authors.forename: Ikuo
authors.initials: I
authors.lastname: Kobayashi
authors.forename: Go
authors.initials: G
authors.lastname: Kitahara
authors.forename: Masahiro
authors.initials: M
authors.lastname: Ikeda
mesh_terms: D000818:Animals; D002417:Cattle; D002418:Cattle Diseases / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics*; D002609:Chediak-Higashi Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000662:veterinary*; D017931:DNA Primers / Q000235:genetics; D006580:Genetic Carrier Screening; D057166:High-Throughput Screening Assays / Q000379:methods / Q000662:veterinary*; D007564:Japan / Q000453:epidemiology; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction / Q000379:methods / Q000662:veterinary*; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: D017931:DNA Primers; D033921:Vesicular Transport Proteins