An Allele-Specific Genotyping Method for Rat Lyst (Lysosomal Trafficking Regulator) Gene

抄録

Two spontaneous mutant beige rats, with phenotypes resembling human Chediak- Higashi syndrome (CHS), were found independently in two inbred strains. Both beige mutations were identified to be recessive alleles in the Lyst locus on rat chromosome 17 and the alleles were denoted Lyst^bg and Lyst^bg-Kyo. As it is almost impossible to discriminate these mutations phenotypically, we developed an allele-specific genotyping method for the Lyst gene. The nested PCR amplification was followed by restriction fragment length polymorphism (RFLP) analysis. By this method, we could discriminate the mutant Lyst^bg, Lyst^bg-Kyo alleles, and the normal Lyst allele, easily and accurately.