NOVEL PRIMER SPECIFIC FALSE TERMINATIONS DURING DNA-SEQUENCING REACTIONS - DANGER OF INACCURACY OF MUTATION ANALYSIS IN MOLECULAR DIAGNOSTICS

The determination of nucleotide sequence is fundamental to the identif ication and molecular analysis of genes. Direct sequencing of PCR prod ucts is now becoming a commonplace procedure for haplotype analysis, a nd for defining mutations and polymorphism within genes, particularly for diagnostic purposes. A previously unrecognised phenomenon, primer related variability, observed in sequence data generated using Tag cyc le sequencing and T7 Sequenase sequencing, is reported, This suggests that is caution necessary when interpreting DNA sequence data. This is particularly important in situations where treatment may be dependent on the accuracy of the molecular diagnosis.