Dipartimento di Medicina Veterinaria, Università di Sassari, Via Vienna 2, 07100 Sassari, Italy.
Mol Biol Rep. 2013 Apr;40(4):2829-35. doi: 10.1007/s11033-012-2298-0. Epub 2012 Nov 25.
The aim of the study was to detect polymorphism in the POU1F1 gene in Sarda breed goat, as well as to establish if SNPs could be associated with milk productive traits. The research was conducted on 129 Sarda breed goats from 4 to 5 years old, multiparous, lactating and in their third to fifth lactation. We report nine exonic and seven non-coding regions SNPs within the Sarda goat POU1F1 gene, namely, Ex 1 61 G>C; Ex 1 108 G>A; Ex 3 C>T; Ex 3 92 C>T; Ex 4 110 A>G; Ex 5 34 G>A resulting in Arg213Lys change; IVS4 641 G>A, IVS4 643 A>C, IVS4 659 G>A, IVS4 677 A>C, IVS4 G699Del, IVS4 709 C>G, Ex 6 17 G>A resulting in Arg228Ser change, Ex 6 58 G>T, Ex 6 172 T>C, 3'UTR 110 T>C. A statistically significant association was found between genotype TT, in position 17 of the exon 6 (3.1 % of frequency), and increased milk yield (P < 0.01) while genotype GT (25.6 % of frequency) was associated with a higher fat content. Genotype TT in position 58 of the exon 6 (3.9 % of frequency) was found to be associated with a higher fat (P < 0.01) and protein content (P < 0.05). Twenty-eight haplotypes were detected, but no significant association between the haplotypes and the milk production traits have been found. Our data, as well as providing new SNPs extending the POU1F1 gene characterization, evidence a relationship between polymorphism and milk production traits in Sarda goat breed.
本研究旨在检测萨能奶山羊 POU1F1 基因的多态性,并确定 SNP 是否与产奶性状相关。研究对象为 129 只 4-5 岁、经产、泌乳且处于第 3-5 泌乳期的萨能奶山羊。我们报道了萨能奶山羊 POU1F1 基因内 9 个外显子和 7 个非编码区的 SNP,分别为 Ex 1 61 G>C;Ex 1 108 G>A;Ex 3 C>T;Ex 3 92 C>T;Ex 4 110 A>G;Ex 5 34 G>A 导致 Arg213Lys 变化;IVS4 641 G>A、IVS4 643 A>C、IVS4 659 G>A、IVS4 677 A>C、IVS4 G699Del、IVS4 709 C>G、Ex 6 17 G>A 导致 Arg228Ser 变化、Ex 6 58 G>T、Ex 6 172 T>C、3'UTR 110 T>C。在第 6 外显子的 17 位(频率为 3.1%)发现 TT 基因型与产奶量增加显著相关(P<0.01),而 GT 基因型(频率为 25.6%)与更高的脂肪含量相关。在第 6 外显子的 58 位发现 TT 基因型(频率为 3.9%)与更高的脂肪(P<0.01)和蛋白质含量(P<0.05)相关。检测到 28 种单倍型,但未发现单倍型与产奶性状之间存在显著关联。我们的数据不仅提供了扩展 POU1F1 基因特征的新 SNP,还证明了萨能奶山羊品种的多态性与产奶性状之间存在关系。