Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1990 Jan;46(1):120–125.

Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis.

M Lagerström 1, N Dahl 1, L Iselius 1, B Bäckman 1, U Pettersson 1
PMCID: PMC1683539  PMID: 1967204

Abstract

X-linked Amelogenesis imperfecta (AI) is a genetic disorder affecting the formation of enamel. In the present study two families, one with X-linked dominant and one with X-linked recessive AI, were studied by linkage analysis. Eleven cloned RFLP markers of known regional location were used. Evidence was obtained for linkage between the AI locus and the marker p782, defining the locus DXS85 at Xp22, by using two-point analysis. No recombination was scored between these two loci in 15 informative meioses, and a peak lod score (Zmax) of 4.45 was calculated at zero recombination fraction. Recombination was observed between the more distal locus DXS89 and AI, giving a peak lod score of 3.41 at a recombination fraction of .09. Recombination was also observed between the AI locus and the more proximal loci DXS43 and DXS41 (Zmax = 0.09 at theta max = 0.31 and Zmax = 0.61 at theta max = 0.28, respectively). Absence of linkage was observed between the AI locus and seven other loci, located proximal to DXS41 or on the long arm of the X chromosome. On the basis of two-point linkage analysis and analysis of crossover events, we propose the following order of loci at Xp22: DXS89-(AI, DXS85)-DXS43-DXS41-Xcen.

Full text

PDF
120

Selected References

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

  1. Aldridge J., Kunkel L., Bruns G., Tantravahi U., Lalande M., Brewster T., Moreau E., Wilson M., Bromley W., Roderick T. A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet. 1984 May;36(3):546–564. [PMC free article] [PubMed] [Google Scholar]
  2. Bakker E., Hofker M. H., Goor N., Mandel J. L., Wrogemann K., Davies K. E., Kunkel L. M., Willard H. F., Fenton W. A., Sandkuyl L. Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet. 1985 Mar 23;1(8430):655–658. doi: 10.1016/s0140-6736(85)91325-x. [DOI] [PubMed] [Google Scholar]
  3. Berkman M. D., Singer A. Demonstration of the lyon hypothesis in X-linked dominant hypoplastic amelogenesis imperfecta. Birth Defects Orig Artic Ser. 1971 Jun;7(7):204–209. [PubMed] [Google Scholar]
  4. Bäckman B., Holmgren G. Amelogenesis imperfecta: a genetic study. Hum Hered. 1988;38(4):189–206. doi: 10.1159/000153785. [DOI] [PubMed] [Google Scholar]
  5. Davies K. E., Mandel J. L., Weissenbach J., Fellous M. Report of the committee on the genetic constitution of the X and Y chromosomes. Cytogenet Cell Genet. 1987;46(1-4):277–315. doi: 10.1159/000132481. [DOI] [PubMed] [Google Scholar]
  6. Davies K. E., Speer A., Herrmann F., Spiegler A. W., McGlade S., Hofker M. H., Briand P., Hanke R., Schwartz M., Steinbicker V. Human X chromosome markers and Duchenne muscular dystrophy. Nucleic Acids Res. 1985 May 24;13(10):3419–3426. doi: 10.1093/nar/13.10.3419. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Drayna D., White R. The genetic linkage map of the human X chromosome. Science. 1985 Nov 15;230(4727):753–758. doi: 10.1126/science.4059909. [DOI] [PubMed] [Google Scholar]
  8. Hofker M. H., Wapenaar M. C., Goor N., Bakker E., van Ommen G. J., Pearson P. L. Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet. 1985;70(2):148–156. doi: 10.1007/BF00273073. [DOI] [PubMed] [Google Scholar]
  9. Kunkel L. M., Monaco A. P., Middlesworth W., Ochs H. D., Latt S. A. Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci U S A. 1985 Jul;82(14):4778–4782. doi: 10.1073/pnas.82.14.4778. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Lathrop G. M., Lalouel J. M. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984 Mar;36(2):460–465. [PMC free article] [PubMed] [Google Scholar]
  11. Lau E. C., Mohandas T. K., Shapiro L. J., Slavkin H. C., Snead M. L. Human and mouse amelogenin gene loci are on the sex chromosomes. Genomics. 1989 Feb;4(2):162–168. doi: 10.1016/0888-7543(89)90295-4. [DOI] [PubMed] [Google Scholar]
  12. Oberlé I., Drayna D., Camerino G., White R., Mandel J. L. The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci U S A. 1985 May;82(9):2824–2828. doi: 10.1073/pnas.82.9.2824. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Page D. C., Harper M. E., Love J., Botstein D. Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution. Nature. 1984 Sep 13;311(5982):119–123. doi: 10.1038/311119a0. [DOI] [PubMed] [Google Scholar]
  14. Rao S., Witkop C. J., Jr Inherited defects in tooth structure. Birth Defects Orig Artic Ser. 1971 Jun;7(7):153–184. [PubMed] [Google Scholar]
  15. Reilly D. S., Lewis R. A., Ledbetter D. H., Nussbaum R. L. Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. Am J Hum Genet. 1988 May;42(5):748–755. [PMC free article] [PubMed] [Google Scholar]
  16. Snead M. L., Zeichner-David M., Chandra T., Robson K. J., Woo S. L., Slavkin H. C. Construction and identification of mouse amelogenin cDNA clones. Proc Natl Acad Sci U S A. 1983 Dec;80(23):7254–7258. doi: 10.1073/pnas.80.23.7254. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
  18. Termine J. D., Belcourt A. B., Christner P. J., Conn K. M., Nylen M. U. Properties of dissociatively extracted fetal tooth matrix proteins. I. Principal molecular species in developing bovine enamel. J Biol Chem. 1980 Oct 25;255(20):9760–9768. [PubMed] [Google Scholar]

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

RESOURCES