Article
Rapid identification of common β-thalassemia mutations in the Chinese population using duplex or triplex amplicon genotyping by high-resolution melting analysis.
Genetic testing and molecular biomarkers - 1 Dec 2010
He Xiang, Sheng Min, Xu Miao, Xiong Can, Ren Zhaorui
Abstract excerpt
β-Thalassemia is one of the most prevalent inherited diseases in China. To date, over 20 β-thalassemia mutations have been identified in the Chinese population, and four mutations [CD41-42 (-4 bp), IVS-2-654C→T, CD17A→T, and -28A→G] account for approximately 90% of the cases. Therefore, the exploration of simple, reliable, and rapid approaches for molecular detection of these common mutations is important for...
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