Literature DB >> 2890571

Familial deletion in Becker type muscular dystrophy within the pXJ region.

S Liechti-Gallati1, S Braga, H Hirsiger, H Moser.   

Abstract

A family of an isolated patient with Becker muscular dystrophy has been investigated by DNA analysis. Southern blotting and hybridization were performed with six probes (C7, pERT87.15, pERT87.1, pXJ1.1, pXJ2.3, 754) mapping in the Xp21 region. A deletion within the pXJ region was demonstrated in the proband, his mother and all three sisters. The segregation pattern for the restriction fragment length polymorphisms (RFLPs) observed with the pXJ probes as well as with pERT87.15, pERT87.1 and 754 probes indicates that the deletion is of grandpaternal origin.

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Year:  1987        PMID： 2890571     DOI： 10.1007/bf00284483

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


  13 in total

1.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

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

2.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Authors:  L M Kunkel; K D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; H W Jones; J M Rary
Journal:  Proc Natl Acad Sci U S A       Date:  1977-03       Impact factor: 11.205

3.  DNA deletion in boy with Becker muscular dystrophy.

Authors:  S Hodgson; K Hart; A Walker; C Cole; L Johnson; M Bobrow; V Dubowitz; L Kunkel
Journal:  Lancet       Date:  1986-04-19       Impact factor: 79.321

4.  DNA deletions in mild and severe Becker muscular dystrophy.

Authors:  K A Hart; S Hodgson; A Walker; C G Cole; L Johnson; V Dubowitz; M Bobrow
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132

5.  Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

Authors:  P N Ray; B Belfall; C Duff; C Logan; V Kean; M W Thompson; J E Sylvester; J L Gorski; R D Schmickel; R G Worton
Journal:  Nature       Date:  1985 Dec 19-1986 Jan 1       Impact factor: 49.962

6.  Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.

Authors:  L M Kunkel; A P Monaco; W Middlesworth; H D Ochs; S A Latt
Journal:  Proc Natl Acad Sci U S A       Date:  1985-07       Impact factor: 11.205

7.  Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.

Authors:  A P Monaco; C J Bertelson; W Middlesworth; C A Colletti; J Aldridge; K H Fischbeck; R Bartlett; M A Pericak-Vance; A D Roses; L M Kunkel
Journal:  Nature       Date:  1985 Aug 29-Sep 4       Impact factor: 49.962

8.  Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy.

Authors:  C S Brown; N S Thomas; M Sarfarazi; K E Davies; L Kunkel; P L Pearson; H M Kingston; D J Shaw; P S Harper
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

9.  Molecular deletion analysis in Duchenne muscular dystrophy.

Authors:  N S Thomas; P N Ray; R G Worton; P S Harper
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318

10.  Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms.

Authors:  M Lindlöf; H Kääriäinen; K E Davies; A de la Chapelle
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318
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  4 in total

1.  Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.

Authors:  X Y Hu; P N Ray; E G Murphy; M W Thompson; R G Worton
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

2.  Molecular deletion patterns in Duchenne and Becker type muscular dystrophy.

Authors:  S Liechti-Gallati; M Koenig; L M Kunkel; D Frey; E Boltshauser; V Schneider; S Braga; H Moser
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

3.  Linkage of Van der Woude syndrome (VWS) to REN and exclusion of the candidate gene TGFB2 from the disease locus in a large pedigree.

Authors:  A Sander; H Moser; S Liechti-Gallati; T Grimm; M Zingg; J Raveh
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

4.  RFLPs for Duchenne muscular dystrophy cDNA clones 9 and 10.

Authors:  S Liechti-Gallati; V Schneider; P Mullis; H Moser
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025
  4 in total

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