Prenatal Diagnosis of Duchenne Muscular Dystrophy (DMD) by the Polymerase Chain Reaction (PCR)
| Autor: | Kyoko Yonamine, Kiyoshi Imaizumi, Keisuke Nosaka, K. Hayashi, Hiroshi Hamada, Seiji Takahashi, Yoshikazu Kuroki |
|---|---|
| Rok vydání: | 1992 |
| Předmět: |
Embryology
biology Duchenne muscular dystrophy Prenatal diagnosis General Medicine HindIII medicine.disease Virology Molecular biology law.invention Restriction enzyme Exon law Complementary DNA Pediatrics Perinatology and Child Health medicine biology.protein Polymerase chain reaction Developmental Biology Southern blot |
| Zdroj: | Congenital Anomalies. 32:179-184 |
| ISSN: | 1741-4520 0914-3505 |
| Popis: | The diagnosis of Duchenne muscular dystrophy (DMD) has been drastically improved by recent advances in DNA analysis. The Southern blot hybridization using the cDNA 8 probe and the restriction enzyme Hind III was conducted in a gravida and her family in blood samples. The diagnosis revealed partial gene deletions in both the gravida and the DMD-affected second child. The prenatal diagnosis was performed by studying the PCR (polymerase chain reaction) for target DNAs of exons 48 and 51 that correspond with cDNA 8 probe. In the affected child, the 506 bp band at exon 48 was detected but 388 bp at exon 51 was missing. On the other hand, both the 506 bp band at exon 48 and the 388 bp band at exon 51 were detected in the cultured amniotic cells. Thus, the fetus was determined to be not affected. |
| Databáze: | OpenAIRE |
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