Prenatal diagnosis for dystrophia myotonica using the polymerase chain reaction |
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| Authors: | C. Clark K. F. Kelly N. Smith N. Fairweather T. Brown A. Johnston N. E. Haites |
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| Affiliation: | 1. Department of Molecular and Cell Biology, Medical Genetics Laboratories, Foresterhill, Aberdeen AB92ZD, U.K.;2. Department of Obstetrics and Gynaecology, University of Aberdeen Medical School, Foresterhill, Aberdeen AB92ZD, U.K. |
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| Abstract: | The polymerase chain reaction has been used to detect an abundant class of short repeat DNA families of the form (dC-dA)n.(dG-dT)n, known as microsatellites. These units are found throughout the human genome and have been characterized for several loci including APOC2 on chromosome 19ql2-ql3.2. The locus APOC2 is linked to the gene for dystrophia myotonica and a microsatellite within this locus was used to derive polymorphisms in a family to predict the inheritance of the disease. Chorionic villus sampling (CVS) was performed at 151/2 weeks' gestation. Following DNA extraction from the CVS material and parental blood samples, microsatellite analysis was carried out by the polymerase chain reaction. |
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| Keywords: | Dystrophia myotonica Polymerase chain reaction APOC2 Microsatellite Prenatal diagnosis |
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