Literature DB >> 2890901

Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy.

S M Forrest1, T J Smith, G S Cross, A P Read, N S Thomas, R C Mountford, P S Harper, R T Geirsson, K E Davies.   

Abstract

Deletions in the gene sequence for Duchenne (DMD) and Becker (BMD) muscular dystrophy were detected in affected males with four cDNA probes, Cf56a, Cf23a, Ca1A, and Cf27. Most of the deletions were seen with only one of the probes. Cf23a detected all BMD deletions seen with Cf56a and some that were not. The same markers also detected restriction fragment length polymorphisms for those cases where deletions were not evident. The probes were also used successfully for prenatal diagnosis in two families each with two DMD affected males. In DMD families successive application of probes Cf56a, Ca1A, and Cf27 will give a 70% chance of detecting the mutation. BMD families should first be screened with the Cf23a probe.

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Year:  1987        PMID: 2890901     DOI: 10.1016/s0140-6736(87)91192-5

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


  23 in total

1.  Screening of gene deletions by polymerase chain reaction in Japanese patients with Duchenne muscular dystrophy.

Authors:  T Nakajima; M Matsuo; Y Kitoh; T Takumi; H Nishio; T Masumura; J Koga; H Nakamura
Journal:  J Neurol       Date:  1991-02       Impact factor: 4.849

2.  Screening for Duchenne muscular dystrophy.

Authors:  R A Smith; M Rogers; D M Bradley; J R Sibert; P S Harper
Journal:  Arch Dis Child       Date:  1989-07       Impact factor: 3.791

3.  Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

Authors:  E Bakker; H Veenema; J T Den Dunnen; C van Broeckhoven; P M Grootscholten; E J Bonten; G J van Ommen; P L Pearson
Journal:  J Med Genet       Date:  1989-09       Impact factor: 6.318

4.  Duchenne muscular dystrophy in Wales: impact of DNA linkage analysis and cDNA deletion screening.

Authors:  A M Norman; M Upadhyaya; N S Thomas; K Roberts; P S Harper
Journal:  J Med Genet       Date:  1989-09       Impact factor: 6.318

5.  Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA.

Authors:  B T Darras; U Francke
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

6.  Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.

Authors:  B T Darras; P Blattner; J F Harper; A J Spiro; S Alter; U Francke
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

7.  Becker muscular dystrophy: correlation of deletion type with clinical severity.

Authors:  A M Norman; N S Thomas; H M Kingston; P S Harper
Journal:  J Med Genet       Date:  1990-04       Impact factor: 6.318

8.  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

9.  Early diagnosis and secondary prevention of Duchenne muscular dystrophy.

Authors:  R A Smith; J R Sibert; S J Wallace; P S Harper
Journal:  Arch Dis Child       Date:  1989-06       Impact factor: 3.791

10.  Molecular genetics as a diagnostic service.

Authors:  P S Harper
Journal:  J Med Genet       Date:  1989-04       Impact factor: 6.318

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