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Hum Genet. 1987 Nov;77(3):241-5.

Functional hemizygosity in the human genome: direct estimate from twelve erythrocyte enzyme loci.

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Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109-0618.


Cord blood samples from 2020 unrelated newborns were screened for levels of enzyme activity for twelve enzymes. The level of enzymatic activity for 100 determinations were consistent with the existence of an enzyme-deficiency allele. The frequency of deficiency alleles in the Black population (0.0071) was four times higher (after removal of the G6PD*A- variant) than in the Caucasian sample (0.0016). These frequencies are approximately double the frequency of rare electrophoretic mobility variants at similar loci in the same population. Given the number of functionally important loci in the human genome, these enzyme deficiency variants could constitute a significant health burden.

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