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[Application value of high-throughput sequencing for the detection of thalassemia in ethnic Li minority areas].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
November 2022
Central Laboratory, Hainan General Hospital, the Affiliated Hainan Hospital of Hainan Medical College, Hainan Provincial Key Laboratory for Cell and Molecular Genetic Translational Medicine, Haikou, Hainan 570311, China.
Objective: To assess the value of high-throughput sequencing for the detection of thalassemia-associated variants in ethnic Li minority areas of Hainan, China.
Methods: In Baoting Li and Miao Autonomous County of Hainan Province, 1842 middle school students were randomly selected as the subjects, which included 1249 ethnic Lis, 454 ethnic Hans, and 139 individuals from other ethnic minorities. With DNA extracted from peripheral blood samples, gap-PCR combined with high-throughput sequencing were carried out to detect potential variants of the globin genes.