NDLI: A Melting Curve Analysis–Based PCR Assay for One-Step Genotyping of β-Thalassemia Mutations

Content Provider	PubMed Central
Author	Xiong, Fu Huang, Qiuying Chen, Xiaoyun Zhou, Yuqiu Zhang, Xinhua Cai, Ren Chen, Yajun Xie, Jiansheng Feng, Shanwei Wei, Xiaofeng Xiao, Qizhi Zhang, Tianlang Luo, Shiqiang Yang, Xuehuang Hao, Ying Qu, Yanxia Li, Qingge Xu, Xiangmin
Copyright Year	2011
Abstract	The increasing number of disease-causing mutations demands a simple, direct, and cost-effective diagnostic genotyping technique capable of detecting multiple mutations. This study validated the efficacy of a novel melting curve analysis–based genotyping assay (MeltPro HBB assay) for 24 β-thalassemia mutations in the Chinese population. The diagnostic potential of this assay was evaluated in 1022 pretyped genomic DNA samples, including 909 clinical cases of β-thalassemia minor or major, using a double-blind analysis in a multicenter validation study. Reproducibility of the assay was 100%, and the limit of detection was 10 pg per reaction. All 24 β-thalassemia mutations were accurately genotyped, and β-thalassemia genotypes were correctly determined in all 1022 samples, yielding overall sensitivity and specificity of 100%. The concordance rate was 99.4% between this assay and the reference method. It was concluded that the MeltPro HBB assay is useful for reliable genotyping of multiple β-thalassemia mutations in clinical settings and may have potential as a versatile method for rapid genotyping of known mutations because of its high throughput, accuracy, ease of use, and low cost.
Related Links	http://dx.doi.org/10.1016/j.jmoldx.2011.03.005
Starting Page	427
File Format	PDF
ISSN	19437811
e-ISSN	19437811
Journal	The Journal of Molecular Diagnostics : JMD
Issue Number	4
Volume Number	13
Language	English
Publisher	American Society for Investigative Pathology
Publisher Date	2011-07-01
Access Restriction	Open
Rights Holder	American Society for Investigative Pathology
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Molecular Medicine Pathology and Forensic Medicine

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