Single-tube genotyping using a solid-phase method that combines alpha-phosphorothioate-mediated primer extension and ExoIII: proof of concept with the F508del cystic fibrosis diagnosis.

Abstract excerpt

Detection of single nucleotide polymorphisms (SNPs) and of mutations is of importance in the field of genetics, biomedical research and in vitro diagnosis. We report here a genotyping procedure that can be virtually applied to any locus within a genome: it uses alpha-phosphorothioate deoxynucleotides in a primer-extension step followed by an ExoIII treatment. Non-extended primers are hydrolyzed whereas extended...

Topics

• Base Sequence
• Cystic Fibrosis
• DNA Primers
• Exodeoxyribonucleases
• Genotype
• Humans
• Molecular Diagnostic Techniques
• Molecular Sequence Data
• Phosphates
• Sequence Analysis, DNA