Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers.
Open Access
- 1 February 1991
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (2) , 89-91
- https://doi.org/10.1136/jmg.28.2.89
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.Keywords
This publication has 9 references indexed in Scilit:
- Direct haplotyping by double digestion of PCR-amplified creatine kinase (CKMM): Application to myotonic dystrophy diagnosisGenomics, 1990
- A NEW POLYMORPHIC PROBE WHICH DEFINES THE REGION OF CHROMOSOME-19 CONTAINING THE MYOTONIC-DYSTROPHY LOCUS1990
- Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers.Journal of Medical Genetics, 1989
- A reordering of human chromosome 19 long-arm DNA markers and identification of markers flanking the myotonic dystrophy locusGenomics, 1989
- GENETIC-STUDIES OF HUMAN APOLIPOPROTEINS .9. APOLIPOPROTEIN-D POLYMORPHISM AND ITS RELATION TO SERUM LIPOPROTEIN LIPID-LEVELS1989
- Report of the committee on the genetic constitution of chromosomes 18 and 19Cytogenetic and Genome Research, 1989
- Isolation and sequence analysis of a full-length cDNA for human M creatine kinaseBiochemical and Biophysical Research Communications, 1986
- Strategies for multilocus linkage analysis in humans.Proceedings of the National Academy of Sciences, 1984
- THE GENES-CODING FOR A-ALPHA-CHAINS, B-BETA-CHAINS, AND GAMMA-CHAINS OF FIBRINOGEN MAP TO 4Q21984