Wang Hong-Mei, Li Jian-Bin, Hou Ming-Hai, Wang Chang-Fa, Li Qiu-Ling, Zhong Ji-Feng
Dairy Cattle Center of Shandong Academy of Agricultural Sciences, Ji'nan 250100, China.
Yi Chuan. 2008 Sep;30(9):1223-7. doi: 10.3724/sp.j.1005.2008.01223.
Complex vertebral malformation (CVM), a lethal autosomal recessive inherited defect in Holstein calves, was newly reported worldwide. The molecular cause of CVM was a substitution of guanine by thymine (G-->T) in a solute carrier family 35 member 3 gene (SLC35A3), encoding UDP-N-acetylglucosamine transporter. It was characterized by stillborn, abortion, and premature birth. The objective of this study was to study the actual carrier frequency of the CVM mutation in a population of Chinese Holstein (=Chinese Black-and-White) normal cattle. The normal 436 Holstein cows and 93 Holstein bulls were genotyping by using the Created Restriction Site PCR (CRS-PCR) and Allele-specific PCR (AS-PCR) methods. There were two bulls and one cow in three observed CVM-carriers. In the Holstein dairy cattle and Holstein bull population, the percentages of CVM carriers were estimated as 0.60% and 2.20% respectively. This study provided a more reliable and useful method for extensive screening of CVM and also offers a theoretical basis for molecular diagnosis in Holstein calves.
复杂椎体畸形（CVM）是荷斯坦犊牛中一种致死性常染色体隐性遗传缺陷，在世界范围内是新报道的。CVM的分子病因是溶质载体家族35成员3基因（SLC35A3）中鸟嘌呤被胸腺嘧啶取代（G→T），该基因编码UDP-N-乙酰葡糖胺转运蛋白。其特征为死产、流产和早产。本研究的目的是研究中国荷斯坦牛（=中国黑白花牛）正常群体中CVM突变的实际携带频率。采用创建限制性位点PCR（CRS-PCR）和等位基因特异性PCR（AS-PCR）方法对436头正常荷斯坦奶牛和93头荷斯坦公牛进行基因分型。在观察到的3头CVM携带者中有2头公牛和1头母牛。在荷斯坦奶牛和荷斯坦公牛群体中，CVM携带者的百分比分别估计为0.60%和2.20%。本研究为广泛筛查CVM提供了一种更可靠、有用的方法，也为荷斯坦犊牛的分子诊断提供了理论依据。
