Mutation screening using automated bidirectional dideoxy fingerprinting.

Y O Shevchenko; S J Bale; J G Compton

doi:10.2144/00281rr01

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PubMed · 10649784

Mutation screening using automated bidirectional dideoxy fingerprinting.

Y O Shevchenko·S J Bale·J G Compton

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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.

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Basal Cell Nevus Syndrome DNA Fingerprinting DNA Mutational Analysis DNA Primers Deoxyguanine Nucleotides Dideoxynucleotides Electrophoresis, Polyacrylamide Gel Genetic Testing Humans Membrane Proteins Patched Receptors Patched-1 Receptor Receptors, Cell Surface Reproducibility of Results Sequence Analysis, DNA Journal Article

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Y O Shevchenko, S J Bale, J G Compton. 2000. Mutation screening using automated bidirectional dideoxy fingerprinting.. https://doi.org/10.2144/00281rr01

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