C. Wang, Q. Tong, X.Z. Hu, L.G. Yang, X.Q. Zhong, Y. Yu, J.J. Wu, W.J. Liu, X. Li, G.H. Hua, H.Q. Zhao, and S.J. Zhang
Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction Ministry of Education, Huazhong Agricultural University, Wuhan, China

Corresponding author: S.J. Zhang
E-mail: sjxiaozhang@mail.hzau.edu.cn
Genet. Mol. Res. 10 (4): 2443-2448 (2011)
Published October 13, 2011
DOI http://dx.doi.org/10.4238/2011.October.13.1

ABSTRACT
Complex vertebral malformation (CVM) is a recently described monogenic autosomal recessive hereditary defect of Holstein dairy cattle that causes premature birth, aborted fetuses and stillborn calves. Guanine is substituted by thymine (G>T) in the solute carrier family 35 member A3 gene (SLC35A3). A valine is changed to a phenylalanine at position 180 of uridine 5’-diphosphate-N-acetylglucosamine transporter protein. CVM is expected to occur in many countries due to the widespread use of sire semen. We developed a created restriction site PCR (CRS-PCR) method to diagnose CVM in dairy cows. This was tested on 217 cows and 125 bulls selected randomly from a Holstein cattle population in south China. Five Holstein cows and five Holstein bulls were identified to be CVM carriers; the percentages of CVM carriers were estimated to be 2.3, 4.0 and 2.9% in the cows, bulls and entire Holstein cattle sample, respectively.

Key words: Complex vertebral malformation; CVM carriers; CRS-PCR; Holstein bulls; Holstein dairy cows.