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

Journal article

AIMS: 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 tested high-resolution melt (HRM) analysis for mutation detection using the Rotor-Gene(6000) realtime rotary analyser. Methods and subjects Polymerase chain reaction and melt conditions (HRM) ...

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Authors: Whittall, R; Scartezini, M; Li, K; Hubbart, C; Reiner, Z

• Journal: Annals of clinical biochemistry
• Volume: 47
• Issue: Pt 1
• Pages: 44-55
• Publication date: 2010-01-01
• DOI: 10.1258/acb.2009.009076
• EISSN: 1758-1001
• ISSN: 0004-5632
• Language: English
• Keywords: Humans; Genetic Testing; Nucleic Acid Denaturation; Polymerase Chain Reaction; Middle Aged; Female; Hyperlipoproteinemia Type II; Male; Infant; Adolescent; DNA Mutational Analysis; Polymorphism, Single Nucleotide; Mutation; Homozygote; Child, Preschool; Adult; Sensitivity and Specificity; Aged; Heterozygote