Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients

• Published in: Annals of clinical biochemistry Vol. 47; no. Pt 1; p. 44
• Main Authors: Whittall, R A, Scartezini, M, Li, Kawah, Hubbart, C, Reiner, Z, Abraha, A, Neil, H A W, Dedoussis, G, Humphries, S E
• Format: Journal Article
• Language: English
• Published: England 01.01.2010
• Subjects: Adolescent; Adult; Aged; Child, Preschool; DNA Mutational Analysis - methods; Female; Genetic Testing - methods; Heterozygote; Homozygote; Humans; Hyperlipoproteinemia Type II - diagnosis; Hyperlipoproteinemia Type II - genetics; Infant; Male; Middle Aged; Mutation; Nucleic Acid Denaturation; Polymerase Chain Reaction - methods; Polymorphism, Single Nucleotide; Sensitivity and Specificity
• ISSN: 1758-1001
• DOI: 10.1258/acb.2009.009076

Current screening methods, such as single strand conformational polymorphism (SSCP) and denaturing high performance liquid chromatography (dHPLC) that are used for detecting mutations in familial hypercholesterolaemia (FH) subjects are time consuming, costly and only 80-90% sensitive. Here we have t...