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Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Nyhan, William L. Bakay, Bohdan Connor, James D. Marks, James F. Keele, Doman K. |
| Copyright Year | 1970 |
| 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. |
| Starting Page | 5124 |
| Ending Page | 5128 |
| Page Count | 5 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://www.pnas.org/content/65/1/214.full.pdf |
| PubMed reference number | 5263751v1 |
| Volume Number | 65 |
| Issue Number | 1 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | CNS disorder Clone Erythrocytes Glucose-6-Phosphate Guanine Heterozygote Hypoxanthine Lesch-Nyhan Syndrome |
| Content Type | Text |
| Resource Type | Article |
