Skip to main content
Kent Academic Repository

Genetic load of mutations causing inherited diseases and its classification in dairy cattle bred in the Russian Federation

Marzanova, Saida N. and Devrishov, Davud A. and Turbina, Irina S. and Marzanov, Nurbiy S. and Griffin, Darren K. and Romanov, Michael N. (2023) Genetic load of mutations causing inherited diseases and its classification in dairy cattle bred in the Russian Federation. In: Chen, Zhi and Li, Cong, eds. Breeding, Genetics and Safety Production of Dairy Cattle. MDPI, Basel, Switzerland, pp. 143-158. ISBN 978-3-0365-8246-7. E-ISBN 978-3-0365-8247-4. (doi:10.3390/books978-3-0365-8247-4) (KAR id:102400)


This review addresses the concept of genetic load from the point of view of molecular genetics, development and efforts in selective breeding. As typical examples, the assessment of animals in the Holstein breed and its high-blooded crossbreeds is considered for mutations that cause three inherited diseases: bovine leukocyte adhesion deficiency (CD18 locus), complex vertebral malformation (SLC35A3 locus), and brachyspina (FANCI locus). The reasons for their occurrence and accumulation in the breeding herds of the black-pied genealogical root are discussed. These include an intense artificial-selection of bulls and cows in highly productive herds and the intensive sale (within and between countries) of breeding material (animals, semen, embryos) from a small population of sires from countries with a high level of dairy-cattle breeding development. There is a founder effect when the source of mutant-allele spread is a prominent sire. For example, the greatest contribution to the spread of mutant alleles CD18G, SLC35A3T and FANCIBY was made by the descendants of three closely related bulls. A genogeographic generalization of the mutation occurrence in the world and Russia is provided for these hereditary-disease loci and, includes a total of 31 countries where these mutations were detected. The genetic-load classification for these and other mutations is given. The mutations are inherited both recessively (CD18G, SLC35A3T, FANCIBY) and codominantly (CSN3A, CSN3C, CSN3E, CSN2A1, CSN2B). Genetic load is classified into the following types: mutational, segregation, substitutional, and immigration. For each of these, examples are given that explain their occurrence. Overall, it can be concluded that the phenomenon of genetic load in industrial herds of dairy cattle requires special attention when creating healthy livestock and obtaining high-quality dairy products.

Item Type: Book section
DOI/Identification number: 10.3390/books978-3-0365-8247-4
Additional information: This is a reprint of articles from the Special Issue published online in the open access journal Agriculture (ISSN 2077-0472) (available at: For the purpose of open access, the author has applied a CC BY public copyright licence to any Author Accepted Manuscript version arising from this submission.
Uncontrolled keywords: hereditary diseases; breeds; dairy cattle; mutations; alleles; genetic-load classification
Subjects: Q Science > QH Natural history > QH426 Genetics
S Agriculture > SF Animal culture
Divisions: Divisions > Division of Natural Sciences > Centre for Interdisciplinary Studies of Reproduction
Divisions > Division of Natural Sciences > Biosciences
Signature Themes: Food Systems, Natural Resources and Environment
Depositing User: Mike Romanov
Date Deposited: 10 Aug 2023 09:56 UTC
Last Modified: 09 Jan 2024 08:45 UTC
Resource URI: (The current URI for this page, for reference purposes)

University of Kent Author Information

  • Depositors only (login required):

Total unique views for this document in KAR since July 2020. For more details click on the image.