Literature DB >> 8314562

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

A M Jones1, S Malcolm, R J Levinsky, C Kinnon.   

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]-PGK1-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 16 Mb. This information should be useful in the eventual identification and isolation of the genes responsible for diseases that map to this region.

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Year:  1993        PMID： 8314562     DOI： 10.1007/bf00217777

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  11 in total

Review 1.  Report of the committee on the genetic constitution of the X chromosome.

Authors:  K E Davies; J L Mandel; A P Monaco; R L Nussbaum; H F Willard
Journal:  Cytogenet Cell Genet       Date:  1990

2.  Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1.

Authors:  V Verga; B K Hall; S R Wang; S Johnson; J V Higgins; T W Glover
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

3.  Physical mapping of 60 DNA markers in the p21.1----q21.3 region of the human X chromosome.

Authors:  R G Lafrenière; C J Brown; V E Powers; L Carrel; K E Davies; D F Barker; H F Willard
Journal:  Genomics       Date:  1991-10       Impact factor: 5.736

4.  An 18-locus linkage map of the pericentromeric region of the human X chromosome: genetic framework for mapping X-linked disorders.

Authors:  M M Mahtani; R G Lafrenière; T A Kruse; H F Willard
Journal:  Genomics       Date:  1991-08       Impact factor: 5.736

5.  Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.

Authors:  F P Cremers; D J van de Pol; P J Diergaarde; B Wieringa; R L Nussbaum; M Schwartz; H H Ropers
Journal:  Genomics       Date:  1989-01       Impact factor: 5.736

6.  Pulsed-field gel electrophoresis and radiation hybrid mapping analyses enable the ordering of eleven DNA loci in Xq22.

Authors:  M A O'Reilly; L A Alterman; J Zijlstra; S Malcolm; R J Levinsky; C Kinnon
Journal:  Genomics       Date:  1993-02       Impact factor: 5.736

7.  "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1984-02       Impact factor: 3.365

8.  X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis.

Authors:  J M Puck; R L Nussbaum; D L Smead; M E Conley
Journal:  Am J Hum Genet       Date:  1989-05       Impact factor: 11.025

9.  Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.

Authors:  F P Cremers; T J van de Pol; B Wieringa; M H Hofker; P L Pearson; R A Pfeiffer; M Mikkelsen; A Tabor; H H Ropers
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

10.  Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia.

Authors:  M Schwartz; H M Yang; E Niebuhr; T Rosenberg; D C Page
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132
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  1 in total

1.  Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis.

Authors:  T Lester; M de Alwis; P A Clark; A M Jones; F Katz; R J Levinsky; C Kinnon
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318
  1 in total

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