title: Mutation screening using automated bidirectional dideoxy fingerprinting.
abstract: 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.
authors.affiliation: National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Y O
authors.initials: YO
authors.lastname: Shevchenko
authors.forename: S J
authors.initials: SJ
authors.lastname: Bale
authors.forename: J G
authors.initials: JG
authors.lastname: Compton
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000235:genetics; D016172:DNA Fingerprinting; D004252:DNA Mutational Analysis / Q000379:methods*; D017931:DNA Primers; D003848:Deoxyguanine Nucleotides / Q000378:metabolism; D054306:Dideoxynucleotides; D004591:Electrophoresis, Polyacrylamide Gel; D005820:Genetic Testing; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; D003848:Deoxyguanine Nucleotides; D054306:Dideoxynucleotides; D008565:Membrane Proteins; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface; C031709:2',3'-dideoxyguanosine 5'-triphosphate