Identification of Complex Vertebral Malformation Carriers in Holstein and Guilan Native Cow Breeds in Iran Using SSCP Markers

Document Type: Research Articles

Authors

1 Department of Animal Science, Faculty of Agricultural Science, University of Guilan,Guilan, Rasht, Iran Department of Genomics, Agricultural Biotechnology Research Institute, Guilan, Rasht,Iran

2 Department of Animal Science, Faculty of Agricultural Science, University of Guilan,Guilan, Rasht, Iran

3 Agriculture Jihad Organization of Guilan, Guilan, Rasht, Iran

Abstract

Complex vertebral malformation(CVM) isanautosomal recessivehereditarydisorder caused bya point mutation in position 559 inexon 4 of the SLC35A3 gene on chromosome 3 inHolstein dairy cattle.This mutationchanges the function of uridine 5-diphosphate-N-acetylglucosamine transporter protein bythe substitution of valine for phenylalanine at position 180 of this protein. The disease causes premature birth, aborted fetuses and stillborn calves. Latentrecessivegenesinheterozygousindividualscan be identified withhigh accuracy and repeatability using PCR-SSCP technique. Inthe present study,blood samples fromtwodifferent cow populations,including 100 Holstein cows and100 Guilan native cattle were randomly collected. Specific primers were used to amplify the 177-bp fragment of exon 4 of the SLC35A3 gene. No heterozygous genotype was detected in the studied samples. The Lack of carriers could be a consequence of the selection against the defective gene and preventative programs for entering mutant genes into the populations or very low frequency of this gene in these populations. However, there is a risk for increased genetic defects prevalence and it is necessary to develop screening programs to identify the defective gene.

Keywords


Agerholm J.S., Bendixen C., Andersen O. and Arnbjerg J. (2001).Complex vertebral malformations in Holstein calves. J. Vet. Diagn. Invest. 13, 283-289.
Agerholm J.S., Andersen O., Almskou M.B., Bendixen C., Arnbjerg J. and Aamand G.P. (2004a). Evaluation of the inheritance of the complex vertebral malformation syndrome by breeding studies. Acta. Vet. Scand. 45, 133-137.
Agerholm J.S., Bendixen C., Arnbjerg J. and Andersen O. (2004b).Morphological variation of complex vertebral malformation in Holstein calves. J. Vet. Diagn. Invest. 16, 548-553.
Javanrouh A., Banabazi M.H., Esmaeilkhanian S., Amirinia C., Seyedabadi H.R. and Emrani H. (2006). Optimization on salting out method for DNA extraction from animal and poultry blood cells. Pp 103 in Proc. The 57th Annual Meeting of the European Association for Animal Production. Antalya. Turkey.
Mahdipour M., AshwaniS., Dubey P.P., Kumar V., Misra B. and Singh A. (2010). Identification of complex vertebral malformation using polymerase chain reaction-primer introduced restriction analysis in Karan Fries bulls. Curr. Trend. Biotech. Pharm. 4, 850-854.
Meydan H., Yildiz M.A. and Agerholm J.S. (2010).Screening for bovine leukocyte adhesion deficiency, deficiency of uridine monophosphate synthase, complex vertebral malformation, bovine citrullinaemia, and factor XI deficiency in Holstein cows reared in Turkey. Acta. Vet. Scand. 10, 52-56.
Nagahata H., Oota H., Nitanai A., Oikawa S., Higuchi H. and Nakade T. (2002). Complex vertebral malformations in a stillborn Holstein calf in Japan.J. Vet. Med. Sci. 64, 1107-1112.
Nielsen U.S., Aamand G.P., Andersen O., Bendixen C., Nielsen V.H. and Agerholm J.S. (2003).Effects of complex vertebral malformation on fertility traits in Holstein cattle. Livest. Prod. Sci. 79, 233-238.
Orita M., Iwahana H., Kanazawa H., Hayashi K. and Sekiya T. (1989).Detection of polymorphisms of human DNA by gel electrophoresis as single strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA. 86, 2766-2770.
Revell S. (2001).Complex vertebral malformations in a Holstein calf in the UK. Vet. Rec. 149, 659-660.
Rusc A. and Kaminski S. (2007).Prevalence of complex vertebral malformation carriers among Polish Holstein-Friesian bulls.J. Appl. Genet. 48(3), 247-252.
Thomsen B., Horn P., Panitz F., Bendixen E., Petersen A.H.,Holm L.E., Nielsen V.H., Agerholm J.S., Arnbjerg J. and Bendixen C. (2006).
A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N- acetylglucosamine transporter, causes complex vertebral malformation. Genome. Res. 16, 97-105.