title: Comparison of SSCP analysis and CFLP analysis for mutation detection in the human iduronate 2-sulfatase gene.
abstract: Scanning methodologies are used for the identification of DNA fragments that differ from the normal nucleotide sequence. Fragments that produce abnormal band patterns are sequenced for characterization of the exact mutation. Factors considered in choosing a scanning methodology include reproducibility, sensitivity, and time. In the present study, we compared single-stranded conformational polymorphism (SSCP) and Cleavase fragment length polymorphism (CFLP) methodologies for mutation scanning of exon VIII in the iduronate 2-sulfatase (IDS) gene. Mutations of the IDS gene result in an X-linked lysosomal storage disease, Hunter syndrome. These six known mutations analyzed by the two methods included a one base pair deletion, a one base pair insertion, and four point mutations. SSCP analysis detected all of the mutations and CFLP analysis detected three of the six mutations. We concluded that SSCP analysis was preferable to CFLP analysis for scanning exon VIII in the IDS gene for mutations.
authors.affiliation: Laboratory of Medical Genetics, University of Alabama at Birmingham 35294, USA.
authors.forename: L O
authors.initials: LO
authors.lastname: Maddox
authors.forename: P
authors.initials: P
authors.lastname: Li
authors.forename: A
authors.initials: A
authors.lastname: Bennett
authors.forename: M
authors.initials: M
authors.lastname: Descartes
authors.forename: J N
authors.initials: JN
authors.lastname: Thompson
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000032:analysis / Q000235:genetics; D005091:Exons; D005260:Female; D017353:Gene Deletion; D005821:Genetic Techniques; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D016532:Mucopolysaccharidosis II / Q000235:genetics; D009154:Mutation; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D004247:DNA; D007066:Iduronate Sulfatase