DOI: 10.26155 / VET.ZOO.BIO.201903015
UDC 636.237.23: 636.082: 57.017.53: 577.21
Authors
M. S. FORNARA, O. V. KOSTYUNIN, A. A. FILIPCHENKO, A. A. SERMYAGIN, N. A. ZINOVIEVA
ALL-RUSSIAN RESEARCH INSTITUTE OF ANIMAL BREEDING NAMED AFTER ACADEMICIAN L. K. ERNST
Abstract
An increase in the level of homozygosity of cultivated cattle breeds causes an increasing negative effect of mutations leading to impaired functions (LoF mutations). Diagnosis of LoF mutations associated with lethal hereditary diseases is one of the main elements in the modern system of genetic monitoring of populations of farm animals. The aim of the research was to develop a test system for determining the LoF mutation in the SUGT1 gene associated with the lethal FH4 haplotype, leading to embryonic mortality, and to study the distribution of this mutation in the population of Simmental breed pedigree cattle. The proposed test system is based on the determination of the T> C mutation (position 11,131,497 on BTA12, assembly of the UMD3.1 genome) in the SUGT1 gene, resulting in the amino acid replacement of W317R, by PCR-RFLP analysis. A study of 109 bulls and 174 cows showed the presence of eight hidden carriers, including four individuals in each group, which corresponds to carrier frequencies of 3,67% and 2,30%, respectively. Taking into account the relatively high frequency of occurrence of carriers of the FH4 haplotype, the proposed test system can be recommended for mass screening of Simmental breeding livestock in Russia. This will make it possible to identify a hereditary mutation at the genotype level in any age and gender groups, eliminate mutations from the selection process of animal carriers and improve the breeding gene pool.
Keywords
fertility haplotypes, cattle, Simmental cattle, hereditary abnormalities, LoF mutations.
