Identification of monomorphic and polymorphic genes associated with recessive fertility defects in Holstein cows reared in Kazakhstan

Identifikacija monomorfnih i polimorfnih gena povezanih s recesivno uvjetovanim poremećajima plodnosti holštajnskih krava u Kazahstanu
Ussenbekov Y. Bagdat A. Bimenova Z. Orynkhanov K. Sobiech P. Samardžija M. Pareek C.S. Dobos A.
2022 University of Zagreb, Facultty of Veterinary Medicine

Veterinarski Arhiv
2022 #92 Issue 1 27 - 35 pp.

Haplotypes of candidate genes namely: apoptotic protease activating factor 1 (APAF1 p.Q579X or HH1), glycinamide ribonucleotide formyltransferase (GART or HH4), structural maintenance of chromosomes 2 (SMC2 or HH3), and haplotype cholesterol deficiency (HCD) genes associated with recessive fertility defects (loss of fertility) were investigated in imported Canadian Holstein cows reared at “Medeu Commerce” LLP breeding farm in Kazakhstan. The genotypic profiling of the APAF1/HH1, GART/HH4 fertility haplotype carriers was carried out by PCR-RFLP methods using BstC8I and Tru9I and MseI, while the genotypic profiling of the SMC2/HH3, and HCD fertility haplotype carriers was carried out using our own primer designed by internal primer marker methods. The study revealed that the PCR-RFLP diagnostic markers APAF1/HH1 and GART/HH4 for recessive fertility defects were monomorphic in the Canadian Holstein cows investigated. However, the diagnostic markers SMC2/HH3 and HCD fertility haplotype carriers (our own design diagnostic markers) were polymorphic, with frequencies of 3% and 11%, respectively, in the investigated Canadian Holstein cows. The study concluded that genetic monitoring of recessive fertility defects enables the timely identification of carriers of harmful lethal mutations, and control of the fertility haplotype elimination process.

APAF1 , APOB , GART , genetic defects , haplotypes , HCD , HH1 , HH3 , HH4 , Holstein cow , loss of fertility , mutations , PCR-RFLP , SMC2 , SNP

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Department of Obstetrics, Surgery and Biotechnology of Animal Reproduction, Kazakh National Agrarian Research University, Almaty, Kazakhstan
Department of Internal Medicine with Clinic, Faculty of Veterinary Medicine, University of Warmia and Mazury in Olsztyn, Olsztyn, Poland
Clinic for Obstetrics and Reproduction, Faculty of Veterinary Medicine, University of Zagreb, Zagreb, Croatia
Department of Basic Science and Pre-clinics, Institute of Veterinary Medicine, Faculty of Biological and Veterinary Sciences, Nicolaus Copernicus University, ul. Gagarina 7, Toruń, 87-100, Poland
CEVA-Phylaxia Co Ltd, Budapest, Hungary

Department of Obstetrics
Department of Internal Medicine with Clinic
Clinic for Obstetrics and Reproduction
Department of Basic Science and Pre-clinics
CEVA-Phylaxia Co Ltd

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