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J Med Genet 1991;28:448-452 doi:10.1136/jmg.28.7.448
  • Research Article

Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers.

  1. J C Mulley,
  2. A K Gedeon,
  3. S J White,
  4. E A Haan,
  5. R I Richards
  1. Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, Australia.

      Abstract

      Linkage was shown between the myotonic dystrophy locus (DM) and a highly polymorphic AC repeat marker within the kallikrein (KLK1) locus (Z = 3.00, theta = 0.0). Linkage between KLK1 and the highly polymorphic AC repeat marker within the apolipoprotein C2 (APOC2) locus, which had been established in normal families, was confirmed in myotonic dystrophy families (Z = 4.37, theta = 0.11). These highly polymorphic AC repeat markers flank DM on chromosome 19. The gene order is cen-APOC2 (0.03) DM (0.08) KLK1-qter with recombination frequencies shown in parentheses. Genotypes for the AC repeat markers can be determined simultaneously by multiplex PCR and separation of the two base pair differences between adjacent alleles on sequencing gels. In informative families, this approach provides rapid diagnosis and is more accurate than methods using markers restricted to the proximal side of the myotonic dystrophy gene.

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