COMPARISON OF SSCP ANALYSIS AND CFLP ANALYSIS FOR MUTATION DETECTION IN THE HUMAN IDURONATE 2-SULFATASE GENE

Scanning methodologies are used for the identification of DNA fragment s that differ from the normal nucleotide sequence. Fragments that prod uce abnormal band patterns are sequenced for characterization of the e xact mutation. Factors considered in choosing a scanning methodology i nclude reproducibility, sensitivity, and time. In the present study, w e compared single-stranded conformational polymorphism (SSCP) and Clea vase fragment length polymorphism (CFLP) methodologies for mutation sc anning of exon VIII in the iduronate 2-sulfatase (IDS) gene. Mutations of the IDS gene result in an X-linked lysosomal storage disease, Hunt er syndrome. These six known mutations analyzed by the two methods inc luded a one base pair deletion, a one base pair insertion, and four po int mutations. SSCP analysis detected all of the mutations and CFLP an alysis detected three of the six mutations. We concluded that SSCP ana lysis was preferable to CFLP analysis for scanning exon VIII in the ID S gene for mutations.