Dettori Maria Luisa, Pazzola Michele, Noce Antonia, Landi Vincenzo, Vacca Giuseppe Massimo
Dipartimento Medicina Veterinaria, Università degli Studi di Sassari, 07100 Sassari, Italy.
Centre de Recerca Agrigenòmica (CRAG), Campus Universitat Autònoma de Barcelona, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain.
Animals (Basel). 2023 Dec 22;14(1):56. doi: 10.3390/ani14010056.
This work aimed to assess the variability of casein genes in a population of 153 bucks and 825 lactating does of the Sarda breed, and to perform association analysis between polymorphic sites and milk yield and composition traits. To genotype the casein genes, we chose an SNP panel including 44 SNPs mapping to the four casein genes , , and . Genotyping (made by KASP™ genotyping assay, based on competitive allele-specific PCR) revealed the high variability of the Sarda goat, and haplotype analysis revealed linkage disequilibrium (LD) between and genes, in addition to two LD blocks within the and two LD blocks within the gene, in bucks and does. Association analysis revealed that variability at all four casein genes was associated with milk protein content, total solids, and milk energy. The three Ca-sensitive casein genes were associated with lipid content, and showed a unique pattern, with intron variants associated with milk yield, in addition to milk pH, NaCl, and SCS (Somatic Cell Score). This information might prove useful in selection schemes and in future investigations aiming to better understand the biology of lactation, and the direct link between genotype and phenotype.
本研究旨在评估153头撒丁岛品种公羊和825头泌乳母羊群体中酪蛋白基因的变异性，并对多态性位点与产奶量及乳成分性状进行关联分析。为了对酪蛋白基因进行基因分型，我们选择了一个包含44个单核苷酸多态性（SNP）的面板，这些SNP定位在四个酪蛋白基因（ 、 、 和 ）上。基因分型（通过基于竞争性等位基因特异性PCR的KASP™基因分型检测进行）显示撒丁岛山羊具有高度变异性，单倍型分析揭示了公羊和母羊中 基因与 基因之间存在连锁不平衡（LD），此外， 基因内有两个LD块， 基因内也有两个LD块。关联分析表明，所有四个酪蛋白基因的变异性均与乳蛋白含量、总固体含量和乳能量相关。三个对钙敏感的酪蛋白基因与脂肪含量相关， 呈现出独特的模式，除了乳pH值、NaCl和体细胞评分（SCS）外，其内含子变异还与产奶量相关。这些信息可能在选择方案以及未来旨在更好地理解泌乳生物学以及基因型与表型之间直接联系的研究中证明是有用的。
