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BY R. J. M. GOLD,I U. R. J. L. NEAL1 AND c. R. SCRIVERl McGill University1 and Universiteâ de Montreâa12 Presented in Part at Annual Meeting of American Society for Human Genetics, Philadelphia, October 1972 The practice of negative eugenics by means of prospective genetic counselling requires the ability to discriminate with high reliability between the wild and mutant genotype. This discrimination usually depends on the result of some biochemical test. Some tests, such as those which actually identify a mutant protein, e.g. HbS, identify genotypes unequivocally. However, in many cases, the data obtained from the mutant genotypes and wild genotypes overlap. This is particularly true of tests which measure enzyme activity or metabolite concentration. This type of test is often used for the identification of heterozygotes as in the current programmes for the prevention of Tay-Sachs disease. I n these cases, the genotype can be identified only with a certain probability which must be correctly calculated. I n some cases, two discriminatory tests are available. As will be shown, use of a second test increases the power to discriminate between genotypes but makes the calculations more difficult. Since the number of instances where heterozygote identification is desirable
Annals of Human Genetics – Wiley
Published: Jan 1, 1974
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