Journal: The Malaysian Journal of Medical Sciences : MJMS
Article Title: Development of DNA-Based Lateral Flow Assay for Detection of LDLR Gene Mutation for Familial Hypercholesterolemia
doi: 10.21315/mjms2024.31.3.6
Figure Lengend Snippet: MassARRAY ® spectrum analysis for gBlock gene fragment and representative clinical samples for E101K, LDLR gene. A) Wild-type gBlock: negative. B) Mutant gBlock: positive. C) Healthy control, HC 1: negative. D) FH 1: positive. The presence of one peak (red boxes) on the spectrum analysis indicates homozygous form, while the presence of two peaks (red boxes) on the spectrum analysis indicates heterozygous form
Article Snippet: Briefly, a panel assay was designed involving the primer design for the PCR process and the iPLEX reaction for the variant of interest (E101K) using the MassARRAY ® Assay Design Suite (ADS) software (Agena Bioscience, USA).
Techniques: Mutagenesis, Control