Efficiency of Diagnostic Methods for Hypotrichosis, Dilutor and Osteopetrosis in Local Cattle Breeds of the Republic of Kazakhstan

Dyussekenova N. Karymsakov T. Sailaubek P. Junussova M. Khussainov D. Kenzhebekova Z. Muslimova Z. Turgumbekov A.
January-February 2026 Unique Scientific Publishers

International Journal of Veterinary Science
2026 #15 Issue 1 143 - 152 pp.

This study aimed to optimize tools for identifying carriers of inherited defects i.e., Hypotrichosis molecular-genetic diagnostic, molecular-genetic diagnostic tools Dilutor, and Osteopetrosis, in local cattle breeds of Kazakhstan. A special focus was given to the development and implementation of a Real-Time PCR method for detecting the Dilutor mutation. Genetic material from 346 cattle of various breeds, including Kazakh White headed, Kalmyk, Auliekol, Hereford, and Santa Gertrudis, was analyzed. TETRA-PRIMER ARMS-PCR and conventional PCR were used to detect Hypotrichosis, while both PCR-RFLP and Real-Time PCR assays were applied to screen for the Dilutor mutation in the SILV gene. The PMEL gene variant p.Ala612Glu, associated with coat color dilution, was assessed using PCR-RFLP. Screening for the Osteopetrosis-associated deletion in the SLC4A2 gene was also performed. A high diagnostic sensitivity was observed for Hypotrichosis detection, with carrier prevalence reaching 6.9% among Hereford cattle and 11.2% among breeding bulls in a major selection center. No heterozygous carriers of the Dilutor or Osteopetrosis mutations were identified. Real-time PCR was demonstrated to be a rapid and scalable method, enabling the genotyping of 96 DNA samples within 2.5 hours. Notably, heterozygosity at the PMEL locus was highest in the Kalmyk breed (25.6%), suggesting a possible link to coat color lightening. The applied molecular tools proved efficient for genetic monitoring in cattle populations. Periodic screening is recommended to prevent the spread of deleterious mutations, particularly in breeding herds.

KRT71 gene , PCR-RFLP , PMEL mutation , SILV locus , SLC4A2 deletion , TETRA-PRIMER ARMS-PCR

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Kazakh National Agrarian Research University, Almaty, Kazakhstan
Kazakh Research Institute of Animal Husbandry and Forage Production, Almaty, Kazakhstan
Asfendiyarov Kazakh National Medical University, Almaty, Kazakhstan

Kazakh National Agrarian Research University
Kazakh Research Institute of Animal Husbandry and Forage Production
Asfendiyarov Kazakh National Medical University

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