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High-Throughput Microtiter Well-Based Chemiluminometric Genotyping of 15 HBB Gene Mutations in a Dry-Reagent Format
Author(s) -
Kyriaki Glynou,
Petros Kastanis,
Sotiria Boukouvala,
Vassilis Tsaoussis,
Penelope C. Ioannou,
Theodore K. Christopoulos,
Joanne TraegerSynodinos,
Emmanuel Kanavakis
Publication year - 2007
Publication title -
clinical chemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.705
H-Index - 218
eISSN - 1530-8561
pISSN - 0009-9147
DOI - 10.1373/clinchem.2006.077776
Subject(s) - genotyping , microbiology and biotechnology , chemiluminescence , genotype , reagent , mutation , mutant , biology , chemistry , gene , chromatography , genetics
Hemoglobinopathies are the most common inherited diseases worldwide. Various methods for genotyping of hemoglobin, beta (HBB) gene mutations have been reported, but there is need for a high sample-throughput, cost-effective method for simultaneous screening of several mutations. We report a method that combines the high detectability and dynamic range of chemiluminescence with the high allele-discrimination ability of probe extension reactions for simultaneous genotyping of 15 HBB mutations in a high sample-throughput, dry-reagent format.

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