Analysis of R199H Polymorphism of Canine Melanophilin Gene (MLPH) in Population of Czech Pointer in Slovakia

Abstract

The canine melanophilin gene (MLPH) is one of three the most studies genes which is associate with coat color dilution in several breeds of dog which is characterized by a specific pigmentation phenotype. The coat color dilution is inherited as a Mendelian autosomal recessive trait and in some breeds is accompanied by hair loss which is the so-called as color dilution alopecia (CDA). The aim of this study was to analyse population of 41 dogs of breed Czech pointer for SNP polymorphism in exon 7 (G® A transition ) causing an exchange from arginine to histidine at position 199 (R199H) of the MLPH protein. Canine genomic DNA was isolated from blood by commercial kit Nucleospin Blood (Macherey Nagel). The R199H polymorphism was detected by PCR-RFLP method with restriction endonuclease HhaI. The allele G was detected by restriction fragments 281 bp, 193 bp, 94 bp and allele A with restriction fragments 474 bp, 94 bp. We detected all three genotypes in the population of dog breed Czech pointer. There were detected homozygote genotype GG – 32 dogs, heterozygous genotype AG – 7 dogs and recessive homozygote genotype AA – 2 dogs.

Keywords

• cda
• dog
• melanophilin gene (mlph)
• pcr-rflp
• polymorphism r199h