Mass Spectrometry–Based Detection of Hemoglobin E Mutation by Allele-Specific Base Extension Reaction | Zendy

Jason C.H. Tsang | Zendy; Pimlak Charoenkwan | Zendy; Katherine CK Chow | Zendy; Yongjie Jin | Zendy; Chanane Wanapirak | Zendy; Torpong Sanguansermsri | Zendy; Y. M. Dennis Lo | Zendy; Rossa W. K. Chiu | Zendy

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Mass Spectrometry–Based Detection of Hemoglobin E Mutation by Allele-Specific Base Extension Reaction

Author(s) -

Jason C.H. Tsang,

Pimlak Charoenkwan,

Katherine CK Chow,

Yongjie Jin,

Chanane Wanapirak,

Torpong Sanguansermsri,

Y. M. Dennis Lo,

Rossa W. K. Chiu

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.2007.095133

Subject(s) - terminator (solar) , genotyping , population , allele , point mutation , genetics , hemoglobin , microbiology and biotechnology , biology , chemistry , genotype , mutation , medicine , gene , biochemistry , physics , ionosphere , environmental health , astronomy

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) disease. Systematic optimization resulted in an alternative protocol, the allele-specific base extension reaction (ASBER).

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