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German scientists discover gene linked to calf mortality

A group of German research scientists recently discovered a new haplotype within the Holstein breed. Unlike previous haplotypes impacting on fertility, this genetic anomaly is associated with calf survival within the first few months of life. Bruce Jobson reports.


The recently discovered haplotype in Holsteins has been labelled the haplotype associated with cholesterol deficiency (HCD), and the genetic anomaly has been found to be associated with calf survival. For animals which inherit the undesirable gene from both sets of parents, this results in prolonged incidences of diarrhoea which is untreatable, as well as other illnesses.


The examination of blood Analysis has shown the specific undesirable gene traces back to Canadian bull Maughlin Storm. samples from affected calves showed a cholesterol deficiency which prevented the normal deposition of fat in body tissue. Over the course of several months, the affected calves lost all body reserves and event- ually died.


German scientists established the inheritance pattern and gene location being on chromosome 11. The specific gene has not as yet been located but a series of SNP genomic tests (known as a haplotype) has identified the inheritance within the genotypes of carrier animals.



Pedigree analysis of carrier animals has shownthe relationships trace back to Canadian bull Maughlin Storm as the oldest common genotyped sire (born in 1991). Owing to the immense popularity of Storm on a global basis, his genes were discovered in Germany, according to Canadian Dairy Network (CDN) general manager Brian Van Doormaal.


He says: “Storm has numerous sons, grandsons widely spread and hence and great grandsons in AI and the negative impact of this genetic anomaly, namely early calf death, only occurs for calves that inherit the gene from both parents.


This happens when two descendants of Storm are mated together and, as has been proven, this can take multiple generations of breeding to discover.


“Now this undesirable anomaly has been identified, an industry effort can easily be made to reduce the frequency of carrier matings. Any negative impact of these genetic anomalies can be eliminated by avoiding the mating of carrier sires to carrier females, and this can be best achieved by using computerised mating programmes.”

Mark Anthony

The haplotype identified in Storm and his descendants also exists in Willowholme Mark Anthony (born in 1975), although this bull does not carry the specific undesirable gene.


The presence of the common haplotype stems from the fact Mark Anthony’s sire, Fairlea Royal Mark, is also the great maternal grandsire of Storm. The anomaly appears to have occurred in the transmission of genes from Royal Mark, down through three generations to Storm, resulting in a form of mutation.


However, without knowing the exact gene, the only available tool for identifying carriers is by using the defined haplotype. This means animals with Storm and Mark Anthony in their pedigree may be falsely identified as carriers of the undesirable gene.


An animal designated by CDN with a dis- played probability of 99% identifies animals expected to have a ‘carrier’ status. A designation of 1% indicates an animal has been identified as ‘free’ based on the haplotype analysis. Animals not genotyped will receive an estimated ‘carrier probability’ on a similar scale, varying from 99% to 1% depending on the probability values of parents and relatives.


Storm grandson, Dudoc Mr Burns (see table), carries the haplotype with the undesirable gene from Storm as well as the haplotype sourced through Mark Anthony. According to Mr Van Doormaal, genotyping Mr Burns’ progeny will not lead to conclusive results regarding the carrier status of the undesirable gene.


HCD Carrier Sires with more than 5000 registered daughters born in Canada



Great Grandsons

September Storm




Final Cut






Mr Burns





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