Advances in understanding, detection and management of genetic defects in dairy cattle

Publication date: 17-06-2026
Extent: 26 pages

Contributions by: Didier Boichard and Aurélien Capitan, Université Paris-Saclay, INRAE, AgroParisTech, GABI, Jouy-en-Josas, France

Chapter synopsis:

Genetic anomalies are severe, often lethal, conditions determined by a harmful variant in a single gene, typically with little or no influence from the environment. Genetic anomalies originate from a mutation event in the genome and spread in the population by genetic drift. There are several types of genetic defects, depending on how they are transmitted, with recessive defects being the most common. High-throughput genome analysis methods have made it much easier to detect and characterise these defects. This chapter presents the different approaches used to characterise genetic defects, the bottom-up approach from phenotype to genotype based on dedicated surveillance networks, but also the top-down approach from genotype to phenotype by data mining. The increasing number of anomalies detected means that they must be taken into account in selection and matings, both to reduce their allele frequency in the long term and to avoid affected offspring in the short term.

DOI: 10.19103/AS.2026.0173.12