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...
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2000-01-01
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| Series: | BioTechniques |
| Online Access: | https://www.future-science.com/doi/10.2144/00281rr01 |
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| _version_ | 1850152691160842240 |
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| author | Yuriy O. Shevchenko Sherri J. Bale John G. Compton |
| author_facet | Yuriy O. Shevchenko Sherri J. Bale John G. Compton |
| author_sort | Yuriy O. Shevchenko |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e1e8f1b61276474980d511ad458d48ad |
| institution | OA Journals |
| issn | 0736-6205 1940-9818 |
| language | English |
| publishDate | 2000-01-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | BioTechniques |
| spelling | doaj-art-e1e8f1b61276474980d511ad458d48ad2025-08-20T02:25:54ZengTaylor & Francis GroupBioTechniques0736-62051940-98182000-01-0128113413810.2144/00281rr01Mutation Screening Using Automated Bidirectional Dideoxy FingerprintingYuriy O. Shevchenko0Sherri J. Bale1John G. Compton21National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA1National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA1National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USAThe 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.https://www.future-science.com/doi/10.2144/00281rr01 |
| spellingShingle | Yuriy O. Shevchenko Sherri J. Bale John G. Compton Mutation Screening Using Automated Bidirectional Dideoxy Fingerprinting BioTechniques |
| title | Mutation Screening Using Automated Bidirectional Dideoxy Fingerprinting |
| title_full | Mutation Screening Using Automated Bidirectional Dideoxy Fingerprinting |
| title_fullStr | Mutation Screening Using Automated Bidirectional Dideoxy Fingerprinting |
| title_full_unstemmed | Mutation Screening Using Automated Bidirectional Dideoxy Fingerprinting |
| title_short | Mutation Screening Using Automated Bidirectional Dideoxy Fingerprinting |
| title_sort | mutation screening using automated bidirectional dideoxy fingerprinting |
| url | https://www.future-science.com/doi/10.2144/00281rr01 |
| work_keys_str_mv | AT yuriyoshevchenko mutationscreeningusingautomatedbidirectionaldideoxyfingerprinting AT sherrijbale mutationscreeningusingautomatedbidirectionaldideoxyfingerprinting AT johngcompton mutationscreeningusingautomatedbidirectionaldideoxyfingerprinting |