title: Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection.
abstract: Denaturing high-performance liquid chromatography (DHPLC) is a novel high-capacity technique for detecting new mutations. We have evaluated the sensitivity and specificity of this method in a blind analysis of exon H of the factor IX gene and exon 16 of the neurofibromatosis type 1 gene. Under a single set of conditions for each exon, 55/55 individuals carrying 48 unique mutations were correctly identified as were 55/55 individuals with wildtype alleles. We conclude that DHPLC is a highly sensitive and specific method for mutation detection.
authors.affiliation: Division of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, CF4 4XN, United Kingdom odonovanmc@cardiff.ac.uk
authors.forename: M C
authors.initials: MC
authors.lastname: O'Donovan
authors.forename: P J
authors.initials: PJ
authors.lastname: Oefner
authors.forename: S C
authors.initials: SC
authors.lastname: Roberts
authors.forename: J
authors.initials: J
authors.lastname: Austin
authors.forename: B
authors.initials: B
authors.lastname: Hoogendoorn
authors.forename: C
authors.initials: C
authors.lastname: Guy
authors.forename: G
authors.initials: G
authors.lastname: Speight
authors.forename: M
authors.initials: M
authors.lastname: Upadhyaya
authors.forename: S S
authors.initials: SS
authors.lastname: Sommer
authors.forename: P
authors.initials: P
authors.lastname: McGuffin
mesh_terms: D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D004252:DNA Mutational Analysis / Q000379:methods*; D005091:Exons / Q000235:genetics; D005164:Factor IX / Q000235:genetics; D006580:Genetic Carrier Screening / Q000379:methods; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D009419:Nerve Tissue Proteins; D025542:Neurofibromin 1; D009691:Nucleic Acid Denaturation; D011506:Proteins / Q000235:genetics; D012680:Sensitivity and Specificity
chemical_list: D009419:Nerve Tissue Proteins; D025542:Neurofibromin 1; D011506:Proteins; D005164:Factor IX