J Appl Biomed 2:187-194, 2004 | DOI: 10.32725/jab.2004.022

Recessive disorders - a serious health hazard?

Jindřich Čítek*, Barbora Bláhová
Department of Genetics, Animal Breeding and Nutrition, Faculty of Agriculture, University of South Bohemia, České Budějovice, Czech Republic

The aim of this study is to summarize new findings on the most important recessive hereditary disorders in cattle. Important diseases in cattle breeding are: BLAD (Bovine Leukocyte Adhesion Deficiency), DUMPS (Deficiency of Uridine - 5-Monophosphate Synthase), MSUD (Maple Syrup Urine Disease), Bovine Citrullinaemia, and - not detected until 2000 - CVM (Complex Vertebral Malformation). Some of these disorders occur also in man. Thanks to the intensive exploitation of elite sires in artificial insemination, the risk of a fast spread world-wide of recessive hereditary defects is extremely high. In animals there are methods for the detection of heterozygotes like test mating, but they are inapplicable in man due to ethical considerations. Molecular genetic methods enable early diagnosis in man, and are useful in genetic counselling. In animals, the detection of heterozygotes enables their selection and therefore the control and prevention of the spread of recessive diseases in the population. The use of new molecular technologies promises quick progress in animal bioechnology.

Keywords: genetic disorders; cattle; CVM; BLAD; DUMPS; MSUD; citrullinaemia

Received: September 17, 2004; Revised: October 12, 2004; Published: July 31, 2004  Show citation

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Čítek J, Bláhová B. Recessive disorders - a serious health hazard? J Appl Biomed. 2004;2(4):187-194. doi: 10.32725/jab.2004.022.
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