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Proceedings of the National Academy of Sciences of the United States of America logoLink to Proceedings of the National Academy of Sciences of the United States of America
. 1970 Jan;65(1):214–218. doi: 10.1073/pnas.65.1.214

Hemizygous Expression of Glucose-6-Phosphate Dehydrogenase in Erythrocytes of Heterozygotes for the Lesch-Nyhan Syndrome*

William L Nyhan 1,2,3, Bohdan Bakay 1,2,3, James D Connor 1,2,3, James F Marks 1,2,3, Doman K Keele 1,2,3
PMCID: PMC286212  PMID: 5263751

Abstract

In women heterozygous for hypoxanthine guanine phosphoribosyl trasferase deficiency, the activity of this enzyme in the erythrocyte is usually normal. In a key kindred two such obligate heterozygotes were also heterozygous for glucose-6-phosphate dehydrogenase types A and B. The AB genotype was confirmed in one by assay of skin fibroblasts. Erythrocytes were exclusively of type B. These observations suggest the clonal origin of the hematopoietic system in these women from a primordial cell line with a single active X chromosome.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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