Institute of Medicinal Plant Development, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100193, People's Republic of China.
Mol Biol Rep. 2013 Jan;40(1):7-12. doi: 10.1007/s11033-012-1934-z. Epub 2012 Nov 1.
The objective of this study was to investigate the single nucleotide polymorphisms (SNPs) within bovine binding lectin-liver (A) gene (MBL1) and to explore its correlation analysis with milk somatic cell score (SCS) which reflects mastitis resistance in cattle. Through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), created restriction site-PCR (CRS-PCR) and DNA sequencing methods, three allelic variant corresponding to the G→A mutation at c.1252G>A in intron1, G→A mutation at c.2534G>A and T→C mutation at c.2569T>C in exon2 of bovine MBL1 gene, could be detected, respectively. The c.2534G>A was a nonsynonymous mutation, resulting in Valine (Val) to Isoleucine (Ile) amino acid replacement (p.Val24Ile). The correlation analysis between the MBL1 SNPs gene and milk SCS were analyzed and a significant correlation with milk SCS was detected in c.2534G>A. The value of milk SCS for individuals with genotype GG was significantly lower than those of genotype GA and AA. Results showed that genotype GG with the lowest milk SCS was favorable for mastitis resistance, whereas genotype AA with the highest milk SCS was easily for mastitis susceptibility. Although more investigations are needed to better clarify the role of these SNPs on mastitis resistance, MBL1 polymorphism appears to be a promising indirect marker to improve dairy mastitis resistance traits in cattle.
本研究旨在探讨牛结合凝集素-肝(A)基因(MBL1)内的单核苷酸多态性(SNPs),并探索其与反映牛乳腺炎抗性的牛奶体细胞评分(SCS)的相关性分析。通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)、创建的限制性位点-PCR(CRS-PCR)和 DNA 测序方法,可分别检测到与牛 MBL1 基因第 1 内含子 c.1252G>A 处 G→A 突变、第 2 外显子 c.2534G>A 和 c.2569T>C 处 G→A 突变和 T→C 突变相对应的三个等位基因变体。c.2534G>A 是一个非同义突变,导致缬氨酸(Val)到异亮氨酸(Ile)氨基酸替换(p.Val24Ile)。对 MBL1 SNPs 基因与牛奶 SCS 的相关性进行分析,发现 c.2534G>A 与牛奶 SCS 显著相关。基因型 GG 的牛奶 SCS 值显著低于基因型 GA 和 AA 的牛奶 SCS 值。结果表明,牛奶 SCS 值最低的基因型 GG 有利于乳腺炎抗性,而牛奶 SCS 值最高的基因型 AA 容易发生乳腺炎易感性。尽管需要进一步研究才能更好地阐明这些 SNPs 对乳腺炎抗性的作用,但 MBL1 多态性似乎是一种有前途的间接标记,可提高奶牛乳腺炎抗性性状。