Ricerca di polimorfismi nel gene POU1F1 negli ovi-caprini di razza sarda

POU1F1 is a pituitary-specific factor regulating growth hormone, prolactin, and thyroid-stimulating hormone. Polymorphisms of POU1F1 gene have been associated with economic traits in chicken, bovine, swine. Recently, polymorphisms of sheep and goat POU1F1 gene have been reported. We used PCR–SSCP and DNA sequencing to identify genetic diversity of exons 2, 3, 6, in 120 animals of Sarda sheep breed and 186 of Sarda goat breed. G>A substitution, in the 3’untraslated region of sheep POU1F1 exon 6, was found in only one animal. No other SNPs were identified in Sarda sheep. Despite this low genetic variability in sheep, two novel SNPs in Sarda goat were found: C>T mutation at position 92 of the exon 3 (silent mutation), and a T>G mutation at position 17 in the exon 6 (missense mutation) causing change of alanina to serina. Moreover we described SfcI andMlyI PCR-RFLP method for detecting these SNPs. Hence we confirmed all four genetic previously reported SNPs in goat POU1F1 exon 6. Significant associations ofSfcI polymorphism with protein (*p<0,05) and fat % (*p<0,01) were found: CC genotype had superior performaces. Significant statistical (*p<0,05) relationships between the MlyI polymorphism of POU1F1 gene (17G>T) and milk yield, protein % were found: TT genotype was uncommon and associated with superior milk yields, TC genotype with protein %. These results suggest that this gene can be considered an important candidate gene for goat traits.