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Review
. 2024 Aug 10;15(8):1052.
doi: 10.3390/genes15081052.

Selected Monogenic Genetic Diseases in Holstein Cattle-A Review

Marta Gozdek  1   2 , Sebastian Mucha  2 , Adam Prostek  1 , Tomasz Sadkowski  1
Affiliations
Review

Selected Monogenic Genetic Diseases in Holstein Cattle-A Review

Marta Gozdek et al. Genes (Basel). .

Abstract

Genetic disorders arise from alterations in the hereditary information encoded in DNA, leading to potential detrimental effects on the well-being and vitality of organisms. Within the bovine population, genetic conditions inherited in an autosomal recessive manner are frequently associated with particular breeds. In recent years, several recessive haplotypes and a few causative mutations have been discovered in Holstein cattle: CDH (Holstein cholesterol deficiency), haplotypes with a homozygous deficiency in Holstein (HH1, HH3, HH4, HH5, HH6 and HH7), BLAD (bovine leukocyte adhesion deficiency) and DUMPS (deficiency of uridine monophosphate synthase). All of these diseases are inherited in an autosomal recessive manner. From a breeding perspective, recessive mutations specifically exhibit considerable detrimental effects and are a significant problem for breeders, exposing them to economic losses. Individual mutations can cause embryo death at any stage of pregnancy. Only genetic research and conscious selection of animals for mating will lead to a reduction in the number of carriers and elimination of mutations from the population.

Keywords: Holstein; dairy cattle; fertility; haplotype; monogenic genetic disease.

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Conflict of interest statement

The authors declare no conflicts of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results.

Figures

Figure 1
Figure 1
Discovery of selected genetic diseases in Holstein cattle [2,3,4,5,6,7,8,9].
Figure 2
Figure 2
Mortality caused by the presence of deleterious mutations (homozygotes).
See this image and copyright information in PMC

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