Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort

• Published in: Human mutation Vol. 19; no. 3; p. 311
• Main Authors: Bunn, Caroline F., Lintott, Caroline J., Scott, Russell S., George, Peter M.
• Format: Journal Article
• Language: English
• Published: New York Wiley Subscription Services, Inc., A Wiley Company 01.03.2002; Hindawi Limited
• Subjects: Adult; Aged; Chromatography, High Pressure Liquid - methods; Chromatography, High Pressure Liquid - standards; Cohort Studies; denaturing high performance liquid chromatography; DHPLC; DNA Mutational Analysis - methods; familial hypercholestrolaemia; Female; Genetic Testing - methods; Genetic Testing - standards; Humans; Hyperlipoproteinemia Type II - diagnosis; Hyperlipoproteinemia Type II - genetics; LDLR; low density lipoprotein receptor; Male; Middle Aged; Mutation - genetics; mutation detection; New Zealand; Nucleic Acid Denaturation; Polymorphism, Single-Stranded Conformational; Receptors, LDL - genetics; single strand conformational polymorphism; SSCP; New Zealand

Familial hypercholesterolaemia (FH) is a common inherited disorder, associated with premature vascular disease. FH may be caused by many different mutations in the low density lipoprotein receptor (LDLR) gene, about 700 mutations have been described, most of which occur rarely and often only in sing...