Skip to main content
Log in

Physical mapping in the region of human Xq12-21.1 using pulsed field gel electrophoresis

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Abstract

A number of human disease genes have been localised to Xq12-21.1. A genetic map of this region has previously been constructed using family linkage studies and has been complemented by physical mapping studies using hybrid and deletion cell lines. We have constructed a preliminary long-range physical map of the region, which incorporates thirteen polymorphic and non-polymorphic probes, using pulsed field gel electrophoresis. The order of loci that can be inferred from all the genetic and physical mapping data is: cen-DXS133-[DXS153, DXS159]-DXS132-DXS135-[DXS131, DXS162]-[DXS325, DXS-347, DXS441]-PGKl-DXS447-DXS72-tel. The detection of several large non-overlapping MluI fragments by these probes implies that the minimum extent of the genomic DNA containing these loci is 16Mb. This information should be useful in the eventual identification and isolation of the genes responsible for diseases that map to this region.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Cremers FPM, Van De Pol DJR, Wieringa B, Hofker MH, Pearson PL, Pfeiffer RA, Mikkelsen M, Tabor A, Ropers HH (1988) Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. Am J Hum Genet 43:452–461

    Google Scholar 

  • Cremers FPM, Van De Pol DJR, Diergaarde PJ, Wieringa B, Nussbaum RL, Schwartz M, Ropers H-H (1989) Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics 4:41–46

    Google Scholar 

  • Davies KE, Mandel J-L, Monaco AP, Nussbaum RL, Willard HF (1991) Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet 58:853–966

    Google Scholar 

  • Feinberg AO, Vogelstein B (1984) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Addendum. Anal Biochem 137:266–267

    CAS  PubMed  Google Scholar 

  • Jones CP, Janson M, Nordenskjold M (1989) Separation of yeast chromosomes in the megabase range suitable as size markers for pulsed-field gel electrophoresis. Technique 1:90–95

    Google Scholar 

  • Lafreniére RG, Brown CJ, Powers VE, Carrel L, Davies KE, Barker DF, Willard HF (1991) Physical mapping of 60 DNA markers in the p21. 1-q21. 3 region of the human X chromosome. Genomics 11:352–363

    Google Scholar 

  • Mahtani MM, Lafreniere RG, Kruse TA, Willard HF (1991) An 18-locus linkage map of the pericentromeric region of the human X chromosome: genetic framework for mapping X-linked disorders. Genomics 10:849–857

    Google Scholar 

  • O'Reilly M-AJ, Alterman LA, Zijlstra J, Malcolm S, Levinsky RJ, Kinnon C (1993) Pulsed field gel electrophoresis and radiation hybrid mapping analyses enable the ordering of eleven DNA loci in Xq22. Genomics 15:275–282

    Google Scholar 

  • Puck JM, Nussbaum RL, Smead DL, Conley ME (1989) X-linked severe combined immunodeficiency: localization with the region Xq13–21. 1 by linkage and deletion analysis. Am J Hum Genet 44:724–730

    Google Scholar 

  • Puck JM, Bailey LC, Conley ME (1991) Update on linkage of X-linked severe combined immunodeficiency (SCIDX1) to loci in Xq13. Cytogenet Cell Genet 58:A27529

    Google Scholar 

  • Schwartz M, Yang H-M, Niebuhr E, Page DC (1988) Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia. Hum Genet 78:156–160

    Google Scholar 

  • Verga V, Hall BK, Wang S, Johnson S, Higgins JV, Glover TW (1991) Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13. 2-q13. 3 proximal to PGK-I. Am J Hum Genet 48:1133–1138

    Google Scholar 

  • Zonana J, Roberts SH, Thomas NST, Harper PS (1988) Recogniion and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X;autosome balanced translocation. J Med Genet 25:383–386

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Jones, A.M., Malcolm, S., Levinsky, R.J. et al. Physical mapping in the region of human Xq12-21.1 using pulsed field gel electrophoresis. Hum Genet 91, 485–488 (1993). https://doi.org/10.1007/BF00217777

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00217777

Keywords

Navigation