| Autor: |
Wright, William T., Hart, Pádraig J., Heggarty, Shirley V., Young, Ian S., Nicholls, D. Paul, Graham, Colin A. |
| Zdroj: |
Ulster Medical Journal; 2009, Vol. 78 Issue 1, p70-70, 1/5p |
| Abstrakt: |
An iPLEX™ assay that includes 57 mutations in the LDLR, APOB and PCSK9 genes, gives a 75% detection rate for definite Familial Hypercholesterolaemia (FH) and was tested to determine if this technology was applicable to routine genetic diagnostics. The iPLEX™ MassARRAY platform (Sequenom GmbH) utilizes single base extension of mass modified terminators using MALDITOF mass spectrometry to analyse primer extension products, determining SNPs accurately, rapidly and economically. The iPLEX™ test was verified by analyzing 150 FH samples with a previously characterized mutation and 96 no-mutation control samples. Mutations were identified in all 150 FH mutation-positive samples using the iPLEX™ assay, with 96% directly called by the software. The false positive rate was 0.015%, and the overall specific mutation assay failure rate was 2.1%. 116 hyperlipidaemia patients with elevated cholesterol levels were tested by the FH iPLEX™ assay, with 21 (18%) having mutations identified. This pick-up rate would be significantly increased were the patients to be selected using the Simon Broome criteria. The FH iPLEX™ system chip can test up to 86 patients in approximately two days at a cost of less than €10 per sample, and so provides a useful and efficient first-line screen for FH. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Supplemental Index |
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