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

Complex Vertebral Malformation (CVM) is a hereditary lethal disease characterized by complex anomalies of the vertebral column and limbs in an aborted fetus and in prematurely born, stillborn, and neonatal calves. The mode of inheritance of CVM is autosomal recessive and it is caused by a point mutation from G to T at nucleotide position 559 of the bovine solute carrier family 35 member 3 (SLC35A3) gene. The aim of this study is to assess the frequency of the mutation in breeding bulls of Karan Fries. In the present investigation 52 Karan Fries bulls were examined by using Polymerase chain reaction– primer introduced restriction analysis (PCR-PIRA) technique. Reported primers were used to introduce Pst I cut site into PCR products and screening of wild-type animals and heterozygote CVM Carrier animals. In the study 12 animals were found to be carriers for this genetic disorder. The genotypic frequency of heterozygous carrier animals 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 for CVM disease.