Journal of APPLIED BIOMEDICINE
ISSN 1214-0287 (on-line)
ISSN 1214-021X (printed)

Volume 2 (2004), No 4, p 187-194




Recessive disorders - a serious health hazard?

Jindrich Citek, Barbora Blahova

Address: Jindrich Citek, Department of Genetics, Animal Breeding and Nutrition, Faculty of Agriculture, University of South Bohemia, Studentska 13, 370 05 Ceske Budejovice, Czech Republic
citek@zf.jcu.cz

Received 17th September 2004.
Revised 12th October 2004.
Published online 4th November 2004.

Full text article (pdf)

SUMMARY
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.

KEY WORDS
genetic disorders; cattle; CVM; BLAD; DUMPS; MSUD; citrullinaemia


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