Skip to main content
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1975 Mar;27(2):218–223.

Half chromatid mutations: transmission in humans?

S M Gartler, U Francke
PMCID: PMC1762757  PMID: 1124765

Abstract

Attention is drawn to the possibility of half chromatid and early somatic mutations and to several implications of these mosaic-yielding events. There is suggestive evidence that spontaneous mutations can result in mosaics. A world-wide cooperative study of Lesch-Nyhan families could determine the extent of half chromatid mutation transmission and early somatic mutation in humans.

Full text

PDF
218

Selected References

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

  1. Atkins J. H., Gartler S. M. Development of a nonselective technique for studying 2, 6, diaminopurine resistance in an established murine cell line. Genetics. 1968 Dec;60(4):781–792. doi: 10.1093/genetics/60.4.781. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Auerbach C., Kilbey B. J. Mutation in eukaryotes. Annu Rev Genet. 1971;5:163–218. doi: 10.1146/annurev.ge.05.120171.001115. [DOI] [PubMed] [Google Scholar]
  3. 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]
  4. 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]
  5. 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]
  6. Itiaba K., Banfalvi M., Crawhall J. C., Mongeau J. G. Family studies of a Lesch-Nyhan patient from an isolated Canadian community. Am J Hum Genet. 1973 Mar;25(2):134–140. [PMC free article] [PubMed] [Google Scholar]
  7. Knudson A. G., Jr Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A. 1971 Apr;68(4):820–823. doi: 10.1073/pnas.68.4.820. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. 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]
  9. Neel J. V., Kato H., Schull W. J. Mortality in the children of atomic bomb survivors and controls. Genetics. 1974 Feb;76(2):311–336. doi: 10.1093/genetics/76.2.311. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Neel J. V. The detection of increased mutation rates in human populations. Perspect Biol Med. 1971;14(4):522–537. doi: 10.1353/pbm.1971.0043. [DOI] [PubMed] [Google Scholar]
  11. 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]
  12. Silvers D. N., Cox R. P., Balis M. E., Dancis J. Detection of heterozygote in Lesch-Nyhan disease by hair-root analysis. N Engl J Med. 1972 Feb 24;286(8):390–395. doi: 10.1056/NEJM197202242860802. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES