Please use this identifier to cite or link to this item: http://hdl.handle.net/11455/32798
標題: Rapid identification of HBB gene mutations by high-resolution melting analysis
作者: Shih, H.C.
張天傑
Er, T.K.
Chang, T.J.
Chang, Y.S.
Liu, T.C.
Chang, J.G.
關鍵字: HBB gene
Mutation
beta-thalassemia
High-resolution melting analysis
Single nucleotide polymorphism
Melting curve
beta-thalassemia mutations
diagnosis
single
chinese
extension
york
pcr
期刊/報告no:: Clinical Biochemistry, Volume 42, Issue 16-17, Page(s) 1667-1676.
摘要: Objective: This study was undertaken to identify HBB gene mutation. Design and methods: Herein we evaluated high-resolution melting analysis in the identification of HBB mutations. Results: We have successfully established a diagnostic strategy for identifying HBB gene mutations including c.-78A>G, c.-79A>G, c.2T>G, c.79_80insT, c.84_85insC, c.123_124insT, c.125_128deITCTT, c.130 G>T, c.170G>A, c.216_217ins A and c.316-197 C>T from wild-type DNA using HRM analysis. The results of HRM analysis were confirmed by direct DNA sequencing. Conclusions: In summary, we report that HRM analysis is an appealing technique for the identification of HBB mutations. We also believe that HRM can be used as a method for prenatal diagnosis of beta-thalassemia. (C) 2009 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.
URI: http://hdl.handle.net/11455/32798
ISSN: 0009-9120
文章連結: http://dx.doi.org/10.1016/j.clinbiochem.2009.07.017
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