Mutation screening using automated bidirectional dideoxy fingerprinting
The need continues to grow for mutation identification in genetic disease in both research and clinical settings. We have developed a rapid nonradioactive bidirectional dideoxy fingerprint mutation screening procedure that is performed using an automated DNA analyzer. This technique features standar...
| Veröffentlicht in: | BioTechniques. - 1988. - 28(2000), 1 vom: 15. Jan., Seite 134-8 |
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| Weitere Verfasser: | , |
| Format: | Aufsatz |
| Sprache: | English |
| Veröffentlicht: |
2000
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| Zugriff auf das übergeordnete Werk: | BioTechniques |
| Schlagworte: | Journal Article DNA Primers Deoxyguanine Nucleotides Dideoxynucleotides Membrane Proteins PTCH1 protein, human Patched Receptors Patched-1 Receptor Receptors, Cell Surface 2',3'-dideoxyguanosine 5'-triphosphate |
| Zusammenfassung: | The need continues to grow for mutation identification in genetic disease in both research and clinical settings. We have developed a rapid nonradioactive bidirectional dideoxy fingerprint mutation screening procedure that is performed using an automated DNA analyzer. This technique features standardized primers and easily interpreted results from separate, but simultaneously collected, images for coding and noncoding strands. Another advantage is simplified mutation verification by sequencing using the same amplified DNA templates and also application to large multi-exon genes. We demonstrate the efficiency and reproducibility of the method in which we screen a DNA fragment encompassing exon 5 of the PTCH gene (in which mutations cause Gorlin Syndrome) in a panel of 22 patients |
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| Beschreibung: | Date Completed 15.02.2000 Date Revised 13.11.2020 published: Print Citation Status MEDLINE |
| ISSN: | 1940-9818 |