Literature DB >> 2879925

Linkage studies in Duchenne and Becker muscular dystrophies.

A Walker, K Hart, C Cole, S Hodgson, L Johnson, V Dubowitz, M Bobrow.   

Abstract

We have studied the inheritance of four cloned DNA sequences which recognise restriction fragment length polymorphisms on the short arm of the X chromosome in families with Becker and Duchenne muscular dystrophy. We have confirmed linkage of two probe loci to the disease loci and have combined our results with those previously published to give a maximum lod score of 11.642 at a recombination fraction of 0.15 for DXS41 (probe 99.6), and a maximum lod of 15.84 at a recombination fraction of 0.15 for DXS84 (probe 754). Linkage of these diseases to the loci defined by the pERT87 probes and probe pXJ1.1 has also been studied, giving maximum lod scores of 8.634 and 5.118 at recombination fractions of 0.02 and 0.00 respectively. The information obtained using these polymorphic DNA markers, combined with pedigree and CK data, can be used to give more accurate genetic counselling to women at risk in Becker and Duchenne families.

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Year:  1986        PMID: 2879925      PMCID: PMC1049835          DOI: 10.1136/jmg.23.6.538

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


  25 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.  Linkage between the loci for benign (Becker-type) X-borne muscular dystrophy and deutan colour blindness.

Authors:  R Skinner; C Smith; A E Emery
Journal:  J Med Genet       Date:  1974-12       Impact factor: 6.318

4.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

5.  The linkage relations of the loci for benign (Becker type) X-borne muscular dystrophy, colour blindness and the Xg blood groups.

Authors:  A E Emery; C A Smith; R Sanger
Journal:  Ann Hum Genet       Date:  1969-01       Impact factor: 1.670

6.  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

7.  Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD.

Authors:  B S Emanuel; E H Zackai; S H Tucker
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318

8.  Regional localization on the human X of DNA segments cloned from flow sorted chromosomes.

Authors:  L M Kunkel; U Tantravahi; M Eisenhard; S A Latt
Journal:  Nucleic Acids Res       Date:  1982-03-11       Impact factor: 16.971

Review 9.  Clinical features and classification of the muscular dystrophies.

Authors:  D Gardner-Medwin
Journal:  Br Med Bull       Date:  1980-05       Impact factor: 4.291

10.  Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.

Authors:  M Zatz; A M Vianna-Morgante; P Campos; A J Diament
Journal:  J Med Genet       Date:  1981-12       Impact factor: 6.318

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  5 in total

1.  Italian experience regarding the prevention of Duchenne and Becker muscular dystrophies.

Authors:  G Romeo; M Devoto; N Archidiacono; A Ferlini; L Roncuzzi; M A Melis; E Paderi; M Ferrari; S Tedeschi; G Galluzzi
Journal:  Eur J Pediatr       Date:  1988-05       Impact factor: 3.183

2.  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

3.  A small deletion in the Duchenne/Becker muscular dystrophy locus--a functionally important region?

Authors:  K A Hart; A P Monaco; L M Kunkel; M Bobrow
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

4.  Service experience using DNA analysis for genetic prediction in Duchenne muscular dystrophy.

Authors:  J Goodship; S Malcolm; M E Robertson; M E Pembrey
Journal:  J Med Genet       Date:  1988-01       Impact factor: 6.318

5.  The application of linkage analysis to genetic counselling in families with Duchenne or Becker muscular dystrophy.

Authors:  S Hodgson; A Walker; C Cole; K Hart; L Johnson; J Heckmatt; V Dubowitz; M Bobrow
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

  5 in total

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