Evaluation of a screening programme for identification of mannosidosis heterozygotes in Angus cattle

ISSN： 1176-0710

Source： New Zealand Veterinary Journal, Vol.22, Iss.10, 1974-10, pp. : 185-190

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Abstract

Diseases inherited as simple recessives frequently reflect simple anomalies of structural or enzymic proteins. Many such inherited diseases of humans have now been defined in biochemical terms (McKusick, 1971) but relatively few have been described adequately in domestic ammals. When the biochemical anomaly is known, then it is frequently possible to develop screening programmes to detect diseased young before the disease is manifest clinically. Such programmes may involve families or small populations at risk, or be developed as mass screening programmes for the entire neonatal population of an area or country. In many biochemically defined diseases inherited as recessives, the heterozygolus state can also be recognized. This is either through detection of a mutant structural protein in the otherwise phenotypically normal individual, e.g., the “S” haemoglobin in carriers of sickle-cell anaemia (Lehmann and Huntsman, 1972) or where an enzyme deficiency is known, by the gene dosage phenomenon i.e., heterozygotes having approximately half the normal amount of the enzyme (Engel, 1972). Where these phenomena are recognized, screening programmes for heterozygotes can be undertaken, particularly within families related to a case of the disease…