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. 1974 Jul;26(4):512–522.

Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes.

U Francke, B Bakay, J D Connor, J G Coldwell, W L Nyhan
PMCID: PMC1762591  PMID: 4842775

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Selected References

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

  1. Bakay B. Detection of radioactive components in polyacrylamide gel disc electropherograms by automated mechanical fractionation. Anal Biochem. 1971 Apr;40(2):429–439. doi: 10.1016/0003-2697(71)90403-9. [DOI] [PubMed] [Google Scholar]
  2. Bakay B., Nyhan W. L. An improved technique for the separation of glucose 6-phosphate dehydrogenase isoenzymes by disc electrophoresis on polyacrylamide gel. Biochem Genet. 1969 Dec;3(6):571–582. doi: 10.1007/BF00485478. [DOI] [PubMed] [Google Scholar]
  3. Bakay B., Nyhan W. L. The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis. Biochem Genet. 1971 Feb;5(1):81–90. doi: 10.1007/BF00485733. [DOI] [PubMed] [Google Scholar]
  4. Coon H. G., Weiss M. C. A quantitative comparison of formation of spontaneous and virus-produced viable hybrids. Proc Natl Acad Sci U S A. 1969 Mar;62(3):852–859. doi: 10.1073/pnas.62.3.852. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. DAVIDSON R. G., NITOWSKY H. M., CHILDS B. DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS. Proc Natl Acad Sci U S A. 1963 Sep;50:481–485. doi: 10.1073/pnas.50.3.481. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Dancis J., Berman P. H., Jansen V., Balis M. E. Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria. Life Sci. 1968 Jun 15;7(12):587–591. doi: 10.1016/0024-3205(68)90079-9. [DOI] [PubMed] [Google Scholar]
  7. Danes B. S., Bearn A. G. Hurler's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis. J Exp Med. 1967 Sep 1;126(3):509–522. doi: 10.1084/jem.126.3.509. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. DeMars R., Held K. R. The spontaneous azaguanine-resistant mutants of diploid human fibroblasts. Humangenetik. 1972;16(1):87–110. doi: 10.1007/BF00393992. [DOI] [PubMed] [Google Scholar]
  9. Felix J. S., DeMars R. Detection of females heterozygous for the Lesch-Nyhan mutation by 8-azaguanine-resistant growth of cultured fibroblasts. J Lab Clin Med. 1971 Apr;77(4):596–604. [PubMed] [Google Scholar]
  10. Francke U., Bakay B., Nyhan W. L. Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates. J Pediatr. 1973 Mar;82(3):472–478. doi: 10.1016/s0022-3476(73)80123-4. [DOI] [PubMed] [Google Scholar]
  11. Gartler S. M., Chen S. H., Fialkow P. J., Giblett E. R., Singh S. X chromosome inactivation in cells from an individual heterozygous for two X-linked genes. Nat New Biol. 1972 Apr 5;236(66):149–150. doi: 10.1038/newbio236149a0. [DOI] [PubMed] [Google Scholar]
  12. Gartler S. M., Gandini E., Angioni G., Argiolas N. Glucose-6 phosphate dehydrogenase mosaicism: utilization as a tracer in the study of the development of hair root cells. Ann Hum Genet. 1969 Oct;33(2):171–176. doi: 10.1111/j.1469-1809.1969.tb01642.x. [DOI] [PubMed] [Google Scholar]
  13. Gartler S. M., Scott R. C., Goldstein J. L., Campbell B. Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles. Science. 1971 May 7;172(3983):572–574. doi: 10.1126/science.172.3983.572. [DOI] [PubMed] [Google Scholar]
  14. Goldstein J. L., Marks J. F., Gartler S. M. Expression of two X-linked genes in human hair follicles of double heterozygotes. Proc Natl Acad Sci U S A. 1971 Jul;68(7):1425–1427. doi: 10.1073/pnas.68.7.1425. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Kelley W. N., Greene M. L., Rosenbloom F. M., Henderson J. F., Seegmiller J. E. Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout. Ann Intern Med. 1969 Jan;70(1):155–206. doi: 10.7326/0003-4819-70-1-155. [DOI] [PubMed] [Google Scholar]
  16. LESCH M., NYHAN W. L. A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION. Am J Med. 1964 Apr;36:561–570. doi: 10.1016/0002-9343(64)90104-4. [DOI] [PubMed] [Google Scholar]
  17. LITTLEFIELD J. W. SELECTION OF HYBRIDS FROM MATINGS OF FIBROBLASTS IN VITRO AND THEIR PRESUMED RECOMBINANTS. Science. 1964 Aug 14;145(3633):709–710. doi: 10.1126/science.145.3633.709. [DOI] [PubMed] [Google Scholar]
  18. LYON M. F. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature. 1961 Apr 22;190:372–373. doi: 10.1038/190372a0. [DOI] [PubMed] [Google Scholar]
  19. Lyon M. F. X-chromosome inactivation and developmental patterns in mammals. Biol Rev Camb Philos Soc. 1972 Jan;47(1):1–35. doi: 10.1111/j.1469-185x.1972.tb00969.x. [DOI] [PubMed] [Google Scholar]
  20. Migeon B. R., Der Kaloustian V. M., Nyhan W. L., Yough W. J., Childs B. X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations. Science. 1968 Apr 26;160(3826):425–427. doi: 10.1126/science.160.3826.425. [DOI] [PubMed] [Google Scholar]
  21. Migeon B. R. Stability of X chromosomal inactivation in human somatic cells. Nature. 1972 Sep 8;239(5367):87–89. doi: 10.1038/239087a0. [DOI] [PubMed] [Google Scholar]
  22. Migeon B. R. X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium. Biochem Genet. 1970 Jun;4(3):377–383. doi: 10.1007/BF00485754. [DOI] [PubMed] [Google Scholar]
  23. Miller O. J., Cook P. R., Meera Khan P., Shin S., Siniscalco M. Mitotic separation of two human X-linked genes in man--mouse somatic cell hybrids. Proc Natl Acad Sci U S A. 1971 Jan;68(1):116–120. doi: 10.1073/pnas.68.1.116. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Nyhan W. L., Bakay B., Connor J. D., Marks J. F., Keele D. K. Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome. Proc Natl Acad Sci U S A. 1970 Jan;65(1):214–218. doi: 10.1073/pnas.65.1.214. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Ricciuti F., Ruddle F. H. Assignment of nucleoside phosphorylase to D-14 and localization of X-linked loci in man by somatic cell genetics. Nat New Biol. 1973 Feb 7;241(110):180–182. doi: 10.1038/newbio241180a0. [DOI] [PubMed] [Google Scholar]
  26. Romeo G., Migeon B. R. Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease. Science. 1970 Oct 9;170(3954):180–181. doi: 10.1126/science.170.3954.180. [DOI] [PubMed] [Google Scholar]
  27. Salzmann J., DeMars R., Benke P. Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells. Proc Natl Acad Sci U S A. 1968 Jun;60(2):545–552. doi: 10.1073/pnas.60.2.545. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Seegmiller J. E., Rosenbloom F. M., Kelley W. N. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science. 1967 Mar 31;155(3770):1682–1684. doi: 10.1126/science.155.3770.1682. [DOI] [PubMed] [Google Scholar]
  29. Zimmermann F. K., Schwaier R., von Laer U. Mitotic recombination induced in Saccharomyces cerevisiae with nitrous acid, diethylsulfate and carcinogenic, alkylating nitrosamides. Z Vererbungsl. 1966;98(3):230–246. doi: 10.1007/BF00888949. [DOI] [PubMed] [Google Scholar]

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