Background
Uridine Monophosphate Synthase (UMPS) is an enzyme, which is responsible for the transition of a specific acid to Uridine Monophosphate (UMP), which is an essential element of pyrimidines (building blocks of DNA). The enzyme has two important functions in the final stages of the process to make pyrimidines, which causes a defect in UMPS to have major consequences.The disease is mainly present in Holstein cattle. The rare hereditary disease causes early abortion of calves, which is caused due to the fact that the defect enzyme looses its function. Embryos affected by DUMPS die in the uterus after about 40 days of pregnancy. Cattle which are carrier of the disease show no symptoms, but express only half of the normal amount of UMPS.
Test specific information
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Age
This disease leads to a reduction in the number of liveborn offspring. Depending on the disease, affected individuals may be stillborn or aborted.
Throughput
Normally the result can be expected within 25 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.
Location of disease or trait
This disease is lethal, and results in stilborn animals or embryonic death.
Breed dependence
For this test samples from all breeds are accepted.
Sample type
For this DNA test we accept the following materials: Hair, Semen, Blood EDTA, Blood Heparin, Tissue. Please contact PharmaDNA if you wish to submit other material as listed.
Result
An animal can be free and has in that situation two healthy alleles. When used in breeding this animal will not become ill due to the disease. It cannot spread the disease in the population.An animal can be carrier and has in that situation one healthy and one disease allele. When used in breeding 50 percent of the offspring will receive the disease allele. Carriers will not become ill.An animal can be affected and has in that situation two disease alleles. When used in breeding all offspring will also receive the disease allele. Affected will become ill.
Inheritance
This genetic factor is inherited in an autosomal, recessive, mode. This means, that the individual can be free of the disease (homozygote normal), affected (homozygous affected) or carrier (heterozygous). Carriers may spread the mutation in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a mutation.
Severity of Disease
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