Literature DB >> 1969486

Carrier estimations in Duchenne muscular dystrophy families in Northern Ireland using RFLP analysis.

E D Kelly1, C A Graham, A J Hill, N C Nevin.   

Abstract

Intragenic RFLP analysis was used to provide carrier risk estimations on 100 possible female carriers from 22 Duchenne muscular dystrophy families. This enabled 78% of possible carriers to be assigned high or low risks (greater than 90% or less than 10%) as opposed to 26% assigned low risk on pedigree data alone. When a single polymorphism is not informative the use of haplotype analysis for carrier estimations is illustrated for one family.

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Year:  1990        PMID: 1969486      PMCID: PMC1016929          DOI: 10.1136/jmg.27.2.101

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  9 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

Review 2.  Molecular genetics of Duchenne and Becker muscular dystrophy.

Authors:  R G Worton; A H Burghes
Journal:  Int Rev Neurobiol       Date:  1988       Impact factor: 3.230

3.  A rapid method for the purification of DNA from blood.

Authors:  M Jeanpierre
Journal:  Nucleic Acids Res       Date:  1987-11-25       Impact factor: 16.971

4.  Recombination between Duchenne muscular dystrophy and DNA marker DXS164 (pERT87)

Authors:  J A Donald; G Morgan; J D Chen; S Serravalle; P Colley; M J Denton
Journal:  Lancet       Date:  1987-01-03       Impact factor: 79.321

5.  Prenatal diagnosis of Duchenne muscular dystrophy by DNA analysis.

Authors:  J M Old; K E Davies
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318

6.  "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1984-02       Impact factor: 3.365

7.  The use of field-inversion gel electrophoresis for deletion detection in Duchenne muscular dystrophy.

Authors:  J D Chen; M J Denton; G Morgan; J H Pearn; A G Mackinlay
Journal:  Am J Hum Genet       Date:  1988-05       Impact factor: 11.025

8.  Patterns of exon deletions in Duchenne and Becker muscular dystrophy.

Authors:  A P Read; R C Mountford; S M Forrest; S J Kenwrick; K E Davies; R Harris
Journal:  Hum Genet       Date:  1988-10       Impact factor: 4.132

9.  Linked polymorphic DNA markers in the prediction of X-linked muscular dystrophy.

Authors:  M Lindlöf; P Sistonen; A de la Chapelle
Journal:  Ann Hum Genet       Date:  1987-10       Impact factor: 1.670

  9 in total

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