Literature DB >> 3180845

Mapping of 12 translocation breakpoints in the Xp21 region with respect to the locus for Duchenne muscular dystrophy.

Y Boyd1, D Cockburn, S Holt, E Munro, G J Van Ommen, B Gillard, N Affara, M Ferguson-Smith, I Craig.   

Abstract

Over 20 females have been reported to carry reciprocal X; autosome translocations with breakpoints in Xp21 and to suffer from Duchenne muscular dystrophy (DMD). We have positioned nine of these breakpoints with respect to the Duchenne gene by mapping probes from the DMD region against a panel of somatic cell hybrids, each containing one of the translocation chromosomes from a different female patient; further information has also been obtained by in situ hybridization, including the breakpoint location in a tenth DMD patient. We have also characterized two translocation breakpoints that lie in the same chromosomal region but which are not associated with the expression of DMD. All the DMD-associated translocation breakpoints examined lie at several sites within the DMD locus and between the two non-DMD breakpoints.

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Year:  1988        PMID： 3180845     DOI： 10.1159/000132581

Source DB:  PubMed          Journal:  Cytogenet Cell Genet        ISSN： 0301-0171


  14 in total

1.  Localization of the gene cluster encoding the A, B, and C chains of human C1q to 1p34.1-1p36.3.

Authors:  G C Sellar; D Cockburn; K B Reid
Journal:  Immunogenetics       Date:  1992       Impact factor: 2.846

Review 2.  The critical region on the human Xq.

Authors:  E Therman; R Laxova; B Susman
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

3.  The physical map of chromosome arm 19q: some new assignments, confirmations and re-assessments.

Authors:  J D Brook; S J Knight; S H Roberts; H G Harley; K V Walsh; S A Rundle; K Freyne; M C Koch; N D Epstein; B Wieringa
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

4.  Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion.

Authors:  V Shashi; W L Golden; P S Allinson; S H Blanton; C von Kap-Herr; T E Kelly
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

5.  Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy.

Authors:  S E Bodrug; J R Roberson; L Weiss; P N Ray; R G Worton; D L Van Dyke
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

6.  An informative panel of somatic cell hybrids for physical mapping on human chromosome 19q.

Authors:  L L Bachinski; R Krahe; B F White; B Wieringa; D Shaw; R Korneluk; L H Thompson; K Johnson; M J Siciliano
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

Review 7.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

8.  Partial inversion of gene order within a homologous segment on the X chromosome.

Authors:  S H Laval; Y Boyd
Journal:  Mamm Genome       Date:  1993       Impact factor: 2.957

9.  Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion.

Authors:  J P Giacalone; U Francke
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

10.  Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene.

Authors:  E F Gillard; J S Chamberlain; E G Murphy; C L Duff; B Smith; A H Burghes; M W Thompson; J Sutherland; I Oss; S E Bodrug
Journal:  Am J Hum Genet       Date:  1989-10       Impact factor: 11.025
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