Rapid, accurate detection of TMPRSS6 gene causative mutations with a high-resolution melting assay.
作者： He-Ming Wu , Liang Li , Xiao-Wen Yuan , Yu-Qiu Zhou , Qi-Zhi Xiao
DOI: 10.1016/J.BCMD.2011.06.004
关键词:
摘要: Mutations of the TMPRSS6 gene are considered major genetic factors for iron-refractory iron deficiency anemia (IRIDA). Artificial clone libraries containing 17 known mutations were used to develop a high-resolution melting (HRM) assay detection mutations. The temperatures and curves able distinguish different genotypes We replicate experiments evaluate reproducibility assay, coefficients variation in range 0.0091% 0.0873%. A total 145 Chinese patients with IDA screened this no causative mutation was found any patient. HRM proved be rapid, accurate cost-effective method identify can clinical diagnosis IRIDA.
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