Literature DB >> 2002492

Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers.

C Lavedan1, H Hofmann, P Shelbourne, C Duros, D Savoy, K Johnson, C Junien.   

Abstract

We report on two cases of prenatal diagnosis of myotonic dystrophy (DM), using flanking markers APOC2 or CKMM on the proximal side and D19S51 on the distal side. By double digestion (TaqI and NcoI) of PCR amplified CKMM, the informativeness was increased from a PIC value of 0.57 to 0.69. Altogether, with a PIC value of 0.64 for APOC2, 0.69 for CKMM, and 0.27 for D19S51 (BglI), presymptomatic and prenatal diagnosis can thus be offered to approximately 24% of persons with a risk between 0.0004 and 0.0008 using these flanking markers.

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Year:  1991        PMID： 2002492      PMCID： PMC1016774          DOI： 10.1136/jmg.28.2.89

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


  8 in total

1.  Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers.

Authors:  A M Norman; J L Floyd; A L Meredith; P S Harper
Journal:  J Med Genet       Date:  1989-12       Impact factor: 6.318

Review 2.  Report of the committee on the genetic constitution of chromosomes 18 and 19.

Authors:  M M Le Beau; D Ryan; M A Pericak-Vance
Journal:  Cytogenet Cell Genet       Date:  1989

3.  A reordering of human chromosome 19 long-arm DNA markers and identification of markers flanking the myotonic dystrophy locus.

Authors:  R G Korneluk; A E MacKenzie; Y Nakamura; I Dubé; P Jacob; A G Hunter
Journal:  Genomics       Date:  1989-10       Impact factor: 5.736

4.  The genes coding for A alpha-, B beta-, and gamma-chains of fibrinogen map to 4q2.

Authors:  I Henry; G Uzan; D Weil; H Nicolas; J C Kaplan; C Marguerie; A Kahn; C Junien
Journal:  Am J Hum Genet       Date:  1984-07       Impact factor: 11.025

5.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

6.  Isolation and sequence analysis of a full-length cDNA for human M creatine kinase.

Authors:  M B Perryman; S A Kerner; T J Bohlmeyer; R Roberts
Journal:  Biochem Biophys Res Commun       Date:  1986-11-14       Impact factor: 3.575

7.  Genetic studies of human apolipoproteins. IX. Apolipoprotein D polymorphism and its relation to serum lipoprotein lipid levels.

Authors:  M I Kamboh; J J Albers; P P Majumder; R E Ferrell
Journal:  Am J Hum Genet       Date:  1989-07       Impact factor: 11.025

8.  A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus.

Authors:  K Johnson; P Shelbourne; J Davies; J Buxton; E Nimmo; M J Siciliano; L L Bachinski; M Anvret; H Harley; S Rundle
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025
  8 in total
  1 in total

1.  D19S51 is closely linked with and maps distal to the myotonic dystrophy locus on 19q.

Authors:  C Tsilfidis; A E MacKenzie; G Shutler; S Leblond; J Bailly; K Johnson; R Williamson; J Siegel-Bartelt; R G Korneluk; P Shelbourne
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025
  1 in total

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