Study of Gene Frequency of DUMPS Disease in of Guilan Native and Holstein Cow Breeds Using PCR-RFLP

Deficiency of uridine monophosphate synthase (DUMPs) is an autosomal recessive genetic disease which caused by a mutation in UMPs gene at codon 405 from exon 5 of bovine chromosome no 1. This mutation leads to a premature stop codon, which subsequently produces a functionally impaired enzyme. It is possible to detect recessive genes of carriers using molecular techniques to prevent DUMPs distribution in population which is time- saving and cost-effective with high accuracy. In this study, blood samples were collected from 100 Iranian Holstein cows and 100 Guilan native cows from Guilan province, Iran. Genomic DNA was extracted from all blood sample using optimized salting out method. Specific primers were applied to amplify a 108 bp fragment from exon 5 in UMPs gene. In order to identify carrier animals, a PCR-RFLP assay was carried out and PCR products were digested by AvaI restriction enzyme. All samples indicated dominant homozygous genotype and no heterozygosis were observed which maybe explained due to high selection pressure and international reduction of defective gene pool. In view of the fact that there is re-occurrence risk of heritable defects, therefore, widespread screening programs to detect genetic disorders seem to be necessary.