Literature DB >> 2912889

Detection of Duchenne muscular dystrophy carriers by dosage analysis using the DMD cDNA clone 8.

Y P Mao1, M Cremer.   

Abstract

Deletion screening in 11 unrelated DMD patients has been performed using DMD cDNA clones 1-8. Of these 11 patients, 6 exhibit deletions of the cDNA clone 8. The carriership of 18 female relatives from these six DMD families has been investigated by dosage analysis. It is shown that dosage analysis is an available method to determine the carrier status of the female relatives of DMD patients showing a deletion within a DMD cDNA clone.

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Year:  1989        PMID： 2912889     DOI： 10.1007/BF00293903

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


  14 in total

1.  A deletion hot spot in the Duchenne muscular dystrophy gene.

Authors:  M C Wapenaar; T Kievits; K A Hart; S Abbs; L A Blonden; J T den Dunnen; P M Grootscholten; E Bakker; C Verellen-Dumoulin; M Bobrow
Journal:  Genomics       Date:  1988-02       Impact factor: 5.736

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.  The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy.

Authors:  P S Harper; T O'Brien; J M Murray; K E Davies; P Pearson; R Williamson
Journal:  J Med Genet       Date:  1983-08       Impact factor: 6.318

4.  Dystrophin: the protein product of the Duchenne muscular dystrophy locus.

Authors:  E P Hoffman; R H Brown; L M Kunkel
Journal:  Cell       Date:  1987-12-24       Impact factor: 41.582

5.  Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

Authors:  M Koenig; E P Hoffman; C J Bertelson; A P Monaco; C Feener; L M Kunkel
Journal:  Cell       Date:  1987-07-31       Impact factor: 41.582

6.  The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.

Authors:  M Koenig; A P Monaco; L M Kunkel
Journal:  Cell       Date:  1988-04-22       Impact factor: 41.582

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.  Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.

Authors:  U Francke; H D Ochs; B de Martinville; J Giacalone; V Lindgren; C Distèche; R A Pagon; M H Hofker; G J van Ommen; P L Pearson
Journal:  Am J Hum Genet       Date:  1985-03       Impact factor: 11.025

10.  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
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  7 in total

1.  Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene.

Authors:  S Abbs; M Bobrow
Journal:  J Med Genet       Date:  1992-03       Impact factor: 6.318

2.  Informative microsatellite markers allow carrier detection in a Duchenne muscular dystrophy deletion pedigree in the absence of DNA from an affected boy.

Authors:  R I Richards; K Friend; E A Haan
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

3.  Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus.

Authors:  T Ried; V Mahler; P Vogt; L Blonden; G J van Ommen; T Cremer; M Cremer
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

Review 4.  Investigation of muscle disease.

Authors:  F L Mastaglia; N G Laing
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-03       Impact factor: 10.154

5.  The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

Authors:  A J van Essen; A L Kneppers; A H van der Hout; H Scheffer; I B Ginjaar; L P ten Kate; G J van Ommen; C H Buys; E Bakker
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

6.  Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.

Authors:  S C Yau; M Bobrow; C G Mathew; S J Abbs
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

7.  Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy.

Authors:  T Voit; E Neuen-Jacob; V Mahler; A Jauch; M Cremer
Journal:  Eur J Pediatr       Date:  1992-02       Impact factor: 3.183
  7 in total

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