Dettori Maria Luisa, Pazzola Michele, Paschino Pietro, Pira Maria Giovanna, Vacca Giuseppe Massimo
Dipartimento di Medicina Veterinaria,Università degli Studi di Sassari,via Vienna,2 07100 Sassari,Italy.
J Dairy Res. 2015 Nov;82(4):434-41. doi: 10.1017/S0022029915000461. Epub 2015 Aug 25.
The 5' flanking region and 3' UTR of the caprine LALBA gene were analysed by SSCP and sequencing. A total of nine SNPs were detected: three in the promoter region, two were synonymous coding SNPs at exon-1, and four SNPs were in exon-4, within the 3'UTR. The nucleotide changes located in the promoter region (c.-358T>C, c.-163G>A, c.-121T>G) were genotyped by SSCP in 263 Sarda goats to evaluate their possible effect on milk yield, composition and renneting properties. We observed an effect of the three SNPs on milk yield and lactose content. Genotypes TT and CT at c.-358T>C (P A (P C and c.-121T>G were part of transcription factors binding sites, potentially involved in modulating the LALBA gene expression. The LALBA genotype affected renneting properties (P < 0.001), as heterozygotes c.-358CT and c.-163GA were characterised by delayed rennet coagulation time and curd firming time and the lowest value of curd firmness. The present investigation increases the panel of SNPs and adds new information about the effects of the caprine LALBA gene polymorphism.
采用单链构象多态性(SSCP)和测序技术对山羊LALBA基因的5'侧翼区和3'非翻译区(UTR)进行了分析。共检测到9个单核苷酸多态性(SNP):3个位于启动子区域,2个是外显子1上的同义编码SNP,4个SNP位于3'UTR的外显子4中。位于启动子区域的核苷酸变化(c.-358T>C、c.-163G>A、c.-121T>G)通过SSCP在263只撒丁岛山羊中进行基因分型,以评估它们对产奶量、乳成分和凝乳特性的可能影响。我们观察到这3个SNP对产奶量和乳糖含量有影响。c.-358T>C位点的TT和CT基因型(P A(P C和c.-121T>G是转录因子结合位点的一部分,可能参与调节LALBA基因的表达。LALBA基因型影响凝乳特性(P < 0.001),杂合子c.-358CT和c.-163GA的特征是凝乳酶凝固时间和凝乳形成时间延迟,凝乳硬度值最低。本研究增加了SNP的种类,并补充了有关山羊LALBA基因多态性影响的新信息。