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The use of biochemical data in screening for mutant alleles and in genetic counselling *

The use of biochemical data in screening for mutant alleles and in genetic counselling * BY R. J. M. GOLD,I U. R. J. L. NEAL1 AND c. R. SCRIVERl McGill University1 and Universite‘ de Montre’a12 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 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Human Genetics Wiley

The use of biochemical data in screening for mutant alleles and in genetic counselling *

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References (15)

Publisher
Wiley
Copyright
Copyright © 1974 Wiley Subscription Services, Inc., A Wiley Company
ISSN
0003-4800
eISSN
1469-1809
DOI
10.1111/j.1469-1809.1974.tb01838.x
Publisher site
See Article on Publisher Site

Abstract

BY R. J. M. GOLD,I U. R. J. L. NEAL1 AND c. R. SCRIVERl McGill University1 and Universite‘ de Montre’a12 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

Journal

Annals of Human GeneticsWiley

Published: Jan 1, 1974

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