Titre du document / Document title

Mutation screening using automated bidirectional dideoxy fingerprinting

Auteur(s) / Author(s)

SHEVCHENKO Yu. O. ⁽¹⁾ ; BALE S. J. ⁽¹⁾ ; COMPTON J. G. ⁽¹⁾ ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

⁽¹⁾ National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ETATS-UNIS

Résumé / 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.

Revue / Journal Title

BioTechniques   ISSN 0736-6205   CODEN BTNQDO 

Source / Source

2000, vol. 28, n^o1, pp. 134-138 (10 ref.)

Langue / Language

Anglais

Editeur / Publisher

Eaton, Natick, MA, ETATS-UNIS  (1983) (Revue)

Mots-clés anglais / English Keywords

Screening ; Mutation ; Method ; DNA ; Sequencing ; Single strand conformation polymorphism ; Automation ;

Mots-clés français / French Keywords

Criblage ; Mutation ; Méthode ; DNA ; Séquençage ; Polymorphisme conformation simple brin ; Automatisation ;

Mots-clés espagnols / Spanish Keywords

Cernido ; Mutación ; Método ; DNA ; Sequencing ; Polimorfismo conformación cadena única ; Automatización ;

Localisation / Location

INIST-CNRS, Cote INIST : 20939, 35400008134901.0240