A novel single nucleotide polymorphism in the coding region of goat growth hormone receptor gene and its association with lactose content and somatic cell count in milk

A novel single nucleotide polymorphism—a C/T transition (RFPL-MspI) was found upon sequencing of a 439 bp DNA fragment, comprising whole exon 4 and parts of adjacent introns of the goat growth hormone receptor gene. This mutation was located at 8th nucleotide of exon 4 (position 94 according to GenBank Acc. No. AY739707). The nucleotide substitution has no effect on the amino acid sequence of the GHR protein. Within the cohort of 227 Polish dairy goats three genotypes were found: CC (frequency 0.96), CT (0.036), and TT (0.004). The frequency of C and T alleles was 0.978 and 0.022, respectively. It was shown that CC genotype goats had significantly higher lactose content and lower somatic cell count than those with the CT genotype. No association was found with the other milk production traits studied.