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Literature DB >> 2988331

Mapping DNA sequences in a human X-chromosome deletion which extends across the region of the Duchenne muscular dystrophy mutation.

C Ingle, R Williamson, A de la Chapelle, R R Herva, K Haapala, G Bates, H F Willard, P Pearson, K E Davies.

Abstract

A somatic cell hybrid has been constructed and characterized using fibroblasts from a phenotypically normal woman who possesses an X chromosome with an interstitial deletion of the short arm. High-resolution banding indicates that the deleted segment is either Xp22.13-p11.4 or Xp22.11-p11.23. Southern blot hybridization to previously mapped DNA sequences confirms that the missing segment of the X chromosome is a deletion and not an interstitial translocation and supports the cytogenetic interpretation that the deletion extends proximal of Xp11.3 and therefore probably comprises Xp22.11-p11.23. Three further DNA sequences have been localized to the region of the deleted segment. The following order has been assigned to the seven probes used: Xpter-RC8-pXUT22-(OA1,C7,M2C)-L1.28-RD6 -Xcen.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1985 PMID： 2988331 PMCID： PMC1684591

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

19 in total

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Authors: B Carritt; S Povey
Journal: Cytogenet Cell Genet Date: 1979

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Authors: E M Southern
Journal: J Mol Biol Date: 1975-11-05 Impact factor: 5.469

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Authors: L M Kunkel; U Tantravahi; M Eisenhard; S A Latt
Journal: Nucleic Acids Res Date: 1982-03-11 Impact factor: 16.971

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Authors: D Drayna; K Davies; D Hartley; J L Mandel; G Camerino; R Williamson; R White
Journal: Proc Natl Acad Sci U S A Date: 1984-05 Impact factor: 11.205

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Authors: M E Harper; G F Saunders
Journal: Chromosoma Date: 1981 Impact factor: 4.316

6. Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes.

Authors: R G Worton; C Duff; J E Sylvester; R D Schmickel; H F Willard
Journal: Science Date: 1984-06-29 Impact factor: 47.728

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Authors: A Westerveld; R P Visser; P Meera Khan; D Bootsma
Journal: Nat New Biol Date: 1971-11-03

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Authors: R Herva; B Kaluzewski; A de la Chapelle
Journal: Am J Med Genet Date: 1979

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Authors: S J Goss; H Harris
Journal: J Cell Sci Date: 1977-06 Impact factor: 5.285

10. A glyceraldehyde-3-phosphate dehydrogenase pseudogene on the short arm of the human X chromosomes defines a multigene family.

Authors: F J Benham; S Hodgkinson; K E Davies
Journal: EMBO J Date: 1984-11 Impact factor: 11.598

16 in total

1. Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa.

Authors: M Coleman; S Bhattacharya; S Lindsay; A Wright; M Jay; M Litt; I Craig; K Davies
Journal: Am J Hum Genet Date: 1990-12 Impact factor: 11.025

2. The role of genetic factors in the etiology of the affective disorders.

Authors: S Hodgkinson; M J Mullan; H M Gurling
Journal: Behav Genet Date: 1990-03 Impact factor: 2.805

3. Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism.

Authors: S P Kwan; L Kunkel; G Bruns; R J Wedgwood; S Latt; F S Rosen
Journal: J Clin Invest Date: 1986-02 Impact factor: 14.808

4. Linkage analysis of X linked retinitis pigmentosa in the Irish population.

Authors: G J Farrar; M T Geraghty; J M Moloney; D J McConnell; P Humphries
Journal: J Med Genet Date: 1988-04 Impact factor: 6.318

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Authors: M Peacocke; K A Siminovitch
Journal: Proc Natl Acad Sci U S A Date: 1987-05 Impact factor: 11.205

6. Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation.

Authors: M H Hofker; A A Bergen; M I Skraastad; N J Carpenter; H Veenema; J M Connor; E Bakker; G J van Ommen; P L Pearson
Journal: Am J Hum Genet Date: 1987-04 Impact factor: 11.025