Prevalence of Arachnomelia, Developmental Duplication, Arthrogriposis Multiplex Syndromes in Angus, Hereford, Kazakh White-headed Breeds


Ussenbekov Y. Junussova R. Myrzaliyev A. Koibagarov K. Turgumbekov A.
Jan-Feb, 2025Unique Scientific Publishers

International Journal of Veterinary Science
2025#14Issue 1219 - 226 pp.

Selection of beef breeds of cattle increases the probability of autosomal recessive diseases, which together with the lack of control over the importation of genetic material and outdated methods of detection of carriers of undesirable mutations causes economic losses of farms in the Republic of Kazakhstan. The aim of this study is to improve the available methods of detection of genetic mutations associated with Arachnomelia syndrome, Developmental Duplication and Arthrogriposis multiplex, as well as to supplement the statistics on detection of these syndromes in farms of the Republic. Thus, polymerase chain reaction (PCR), polymerase chain reaction-polymorphism of length of restriction fragments (PCR-PLRF) and Real-time PCR methods were applied for identification of target fragments and optimal conditions for each stage of the diagnostic process were determined. 360 samples of genetic material from 120 animals each of Aberdeen-Angus, Hereford and Kazakh white-headed breeds were analysed for disease carriers. As a result, clear instructions for the diagnosis of the syndromes considered were obtained. The Real-time PCR method and allelic discrimination charts were successfully applied for the detection of disease carriers. The results of screening revealed 13 cases of mutations in loci of target genes in animals of Aberdeen-Angus and Hereford breeds. Animals of the Aberdeen-Angus breed was the most prone to mutations, animals of the Kazakh white-headed breed were the least prone – no cases of mutations. According to the results of genotyping, the frequency of genetic anomalies Arachnomelia syndrome, Developmental Duplication, Arthrogriposis multiplex in the Angus breed was 4.1, 1.66 and 5%, respectively. Heterozygous carriers of only two genetic defects, Arachnomelia syndrome and Arthrogriposis multiplex, were found in the Hereford breed, with the prevalence of 2.5 and 1.66%. Timely and quality diagnosis of mutant gene carriers can help to remove these animals from the chain of genetic material transmission and reduce farm losses from the birth of sick or non-viable animals.

Autosomal recessive diseases , Beef cattle breeds , Genetic diseases , Polymerase chain reaction , Real-time polymerase chain reaction

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Department of Obstetrics, Surgery and Reproductive Biotechnology, Kazakh National Agrarian Research University, 8 Abay Ave, Almaty, 050010, Kazakhstan
Department of Biology, Abai Kazakh National Pedagogical University, 13 Dostyk Ave, Almaty, 050010, Kazakhstan
Department of Production and Implementation of Preparations, Kazakh Scientific Research Veterinary Institute, 223 Raiymbek Ave, Almaty, 050016, Kazakhstan

Department of Obstetrics
Department of Biology
Department of Production and Implementation of Preparations

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