Article
Mass spectrometry-based detection of hemoglobin E mutation by allele-specific base extension reaction.
Clinical chemistry - 1 Dec 2007
Tsang Jason C H, Charoenkwan Pimlak, Chow Katherine C K, Jin Yongjie, Wanapirak Chanane, Sanguansermsri Torpong, Lo Y M Dennis, Chiu Rossa W K
Abstract excerpt
BACKGROUND: The specific detection of a minor population of mutant DNA molecules requires methods of high specificity and sensitivity. While the single-allele base extension reaction (SABER) was shown to be useful for the detection of certain beta-thalassemia mutations, we encountered problems with false positivity during development of SABER for the noninvasive prenatal diagnosis of the hemoglobin E (HbE)...
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