Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection.
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.
O'Donovan
M C
MC
Division of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, CF4 4XN, United Kingdom odonovanmc@cardiff.ac.uk
Oefner
P J
PJ
Roberts
S C
SC
Austin
J
J
Hoogendoorn
B
B
Guy
C
C
Speight
G
G
Upadhyaya
M
M
Sommer
S S
SS
McGuffin
P
P
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
D009419:Nerve Tissue Proteins; D025542:Neurofibromin 1; D011506:Proteins; D005164:Factor IX