TAILIEUCHUNG - báo cáo khoa học: " The prevalence of heterozygotes for α-mannosidosis populations of Angus, Galloway and Murray Grey cattle in New South Wales"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: The prevalence of heterozygotes for α-mannosidosis populations of Angus, Galloway and Murray Grey cattle in New South Wales | Génét. Sél. Evol. 1983 15 3 455-460 NOTE The prevalence of heterozygotes for a-mannosidosis in populations of Angus Galloway and Murray Grey cattle in New South Wales . HEALY New South Wales Department of Agriculture Veterinary Research Station Roy Watts Road Glenfield New South Wales 2167 Australia Summary Samples from 24503 cattle of 3 breeds were examined to detect heterozygotes for the lysosomal storage disease a-mannosidosis. Diagnoses were based upon results of plasma or serum and granulocyte tests. The prevalence of heterozygotes for a-mannosidosis was for registered Angus for Red Angus for commercial Angus for Galloways and for Murray Greys. Key-words Bovine - a-mannosidosis - heterozygote - detection. Resume Frequence des heterozygotes pour I alpha-mannosidose dans les races bovines Angus Galloway et Murray Grey des Nouvelles-Galles du Sud Un échantillon de 24 503 bovins des races Angus Galloway et Murray-Grey a été examine en vue de la detection d individus heterozygotes pour I alpha-mannosidose maladie metabolique liée à une deficience des lysosomes. Le diagnostic individuel repose sur des tests quantifiant I activite de I alpha-mannosidase dans les plasma OU serum et granulocytes. La frequence des hétérozỵgotes ainsi détectés est de 5 6 dans le betail Angus inscnt 5 4 en Red Angus 5 9 en Angus commercial 17 9 en Galloway et 2 8 en Murray-Grey. Mots-clés Bovins - a-mannosidose - heterozygote - detection. I. Introduction a-Mannosidosis is an inborn error of metabolism characterised by an accumulation of glycoprotein residues within lysosomes as a consequence of a deficiency of lysosomal a-mannosidase activity. The disease is inherited in an autosomal recessive manner. Hetorozygotes have approximately half the activity of a-mannosidase found in blood and tissues of homozygous normal subjects Hocking et al. 1972 . Demonstration of this partial deficiency is the basis of tests for detection of heterozygotes Jolly et al. 1973 . In .

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