Mass spectrometry-based detection of hemoglobin E mutation by allele-specific base extension reaction

• Main Authors: Jason C.H. Tsang, Pimlak Charoenkwan, Katherine C.K. Chow, Yongjie Jin, Chanane Wanapirak, Torpong Sanguansermsri, Y. M.Dennis Lo, Rossa W.K. Chiu
• Format: Journal
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology; Medicine
• Online Access: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=36649013864&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/60870
• Institution: Chiang Mai University

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...