Identification of Complex Vertebral Malformation using Polymerase Chain Reaction–Primer Introduced Restriction Analysis in Karan Fries Bulls

Order of Publishing in Issue: 
Volume :4
Issue :4
October, 2010
Page No: 
Mahdi Mahdipour 1, Ashwani Sharma1, P. P. Dubey[1],[2]*, Vijay Kumar[1], Bina Misra[2] and Avtar Singh[1]
1National Dairy Research Institute, Karnal, 132001, Haryana, India
2 National Bureau of Animal Genetic Resources, Karnal, 132001, Haryana, India

Complex Vertebral Malformation (CVM) is a hereditary lethal disease characterized by complex anomalies of the vertebral column andlimbs in an aborted fetus and in prematurely born, stillborn, and neonatal calves. The mode of inheritance of CVM is autosomal recessive and itis caused by a point mutation from G to T at  nucleotide position 559 of the bovine solute carrierfamily 35 member 3 (SLC35A3) gene. The aim of this study is to assess the frequency of themutation in breeding bulls of Karan Fries. In the present investigation 52 Karan Fries bulls wereexamined by using Polymerase chain reaction– primer introduced restriction analysis (PCRPIRA)technique. Reported primers were used to introduce Pst I cut site into PCR products andscreening of wild-type animals and heterozygote CVM Carrier animals. In the study 12 animalswere found to be carriers for this genetic disorder. The genotypic frequency of heterozygous carrieranimals and undesired allele frequency were estimated as 23.08 % and 0.115 % respectively.These carrier bulls may be excluded from the herd and their progeny should also be screened forCVM disease.

CVM, Karan Fries, Missense mutation, SLC35A3 gene
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