Identification of complex vertebral malformation carriers in Chinese Holstein

J Vet Diagn Invest. 2008 Mar;20(2):228-30. doi: 10.1177/104063870802000215.

Abstract

Complex vertebral malformation (CVM) is a monogenic autosomal recessive hereditary defect of Holstein dairy cattle. It is caused by a point mutation from G to T at the nucleotide position 559 in bovine solute carrier family 35, member 3 gene (SLC35A3), which changes the amino acid sequence of uridine 5'-diphosphate-N-acetylglucosamine transporter protein from a valine to a phenylalanine in position 180. The elite U.S. Holstein sire Penstate Ivanhoe Star was identified as the common ancestor of the current CVM carriers. Because his offspring, mainly those of Carlin-M Ivanhoe Bell, were used in many countries, CVM has potentially spread into China. In the present study, using the polymerase chain reaction-single-stranded conformational polymorphism (PCR-SSCP) technique, 10 CVM carriers were found among 68 at-risk Chinese Holstein bulls, and 282 carriers were found among 602 at-risk cows. The results of this study indicate that the CVM gene exists in the Chinese Holstein population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / veterinary*
  • Animals
  • Base Sequence
  • Cattle / abnormalities
  • Cattle / genetics*
  • Cattle Diseases / genetics*
  • Cervical Vertebrae / abnormalities*
  • DNA / chemistry
  • DNA / genetics
  • Female
  • Heterozygote
  • Male
  • Monosaccharide Transport Proteins / genetics*
  • Point Mutation
  • Polymerase Chain Reaction / veterinary
  • Polymorphism, Single-Stranded Conformational
  • Spine / abnormalities

Substances

  • Monosaccharide Transport Proteins
  • DNA