ArticleThe Journal of molecular diagnostics : JMD2011
A melting curve analysis--based PCR assay for one-step genotyping of β-thalassemia mutations a multicenter validation.
Article in The Journal of molecular diagnostics : JMD, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 41 citations in OpenAlex.
- An Integrated Genotyping Strategy for α/β-Thalassemia: Based on the Analysis of the Coding Sequences and Expression Levels of HBA2, HBA1, and HBB in Peripheral Blood mRNA.Journal of clinical laboratory analysis · 2026Article
- Detection of four rare thalassemia variants using Single-molecule realtime sequencing.Frontiers in genetics · 2022Article
- Quantification of DNA through the NanoDrop Spectrophotometer: Methodological Validation Using Standard Reference Material and Sprague Dawley Rat and Human DNA.International journal of analytical chemistry · 2020Article
- Update in Laboratory Diagnosis of Thalassemia.Frontiers in molecular biosciences · 2020Review
- Systematic assessment of the performance of whole-genome amplification for SNP/CNV detection and β-thalassemia genotyping.Journal of human genetics · 2018Article
- Establishment of a Gene Detection System for Hotspot Mutations of Hearing Loss.BioMed research international · 2018Article
- Rapid and Reliable Detection of Nonsyndromic Hearing Loss Mutations by Multicolor Melting Curve Analysis.Scientific reports · 2017Article
- Detection of Anti-Hepatitis B Virus Drug Resistance Mutations Based on Multicolor Melting Curve Analysis.Journal of clinical microbiology · 2016Article
- Characterization of Deletions of the HBA and HBB Loci by Array Comparative Genomic Hybridization.The Journal of molecular diagnostics : JMD · 2016Article
- Multicolor Melting Curve Analysis-Based Multilocus Melt Typing of Vibrio parahaemolyticus.PloS one · 2015Article
- Rapid detection of isoniazid resistance in Mycobacterium tuberculosis isolates by use of real-time-PCR-based melting curve analysis.Journal of clinical microbiology · 2014Article
- High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population.PloS one · 2014Article
- High throughput molecular confirmation of β-thalassemia mutations using novel TaqMan probes.Sensors (Basel, Switzerland) · 2013Article
- A multiplex approach to the molecular diagnosis of β-thalassemia.The Journal of molecular diagnostics : JMD · 2011Article
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
18 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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