Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers
| Autor: | Chantal Duros, D Savoy, Keith J. Johnson, H Hofmann, P Shelbourne, C. Lavedan, Claudine Junien |
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| Rok vydání: | 1991 |
| Předmět: |
Adult
Genetic Markers Male medicine.medical_specialty TaqI Genetic Linkage Molecular Sequence Data Prenatal diagnosis Biology Polymerase Chain Reaction Myotonic dystrophy law.invention chemistry.chemical_compound Pregnancy law Prenatal Diagnosis Internal medicine Genetics medicine Humans Myotonic Dystrophy Genetics (clinical) Polymerase chain reaction Base Sequence Chromosome Mapping Middle Aged medicine.disease Myotonia Endocrinology Chorionic Villi Sampling chemistry Genetic marker Female Chromosomes Human Pair 19 Research Article |
| Zdroj: | Journal of Medical Genetics. 28:89-91 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.28.2.89 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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