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目的建立一套设有内对照的、简便可靠的、诊断广东省常见的3种缺失型α地中海贫血的基因芯片技术,用于α地中海贫血的分子诊断。方法自行设计5组引物,优化PCR反应条件,运用PCR,芯片杂交,根据荧光信号的有无及位置检测中国人常见的3种缺失型(--SEA,-α3.7,-α4.2)α地中海贫血。结果成功地检测中国人常见的3种缺失型α地中海贫血,检测结果与Southern blotting分析及直接测序的结果一致。结论本研究所建立的方法准确、重复性好,便于临床样本分析及人群中α地中海贫血基因的筛查。
Objective To establish a set of simple and reliable gene chip technology with internal control for diagnosis of three kinds of deletional α-thalassemia common in Guangdong Province for the molecular diagnosis of α-thalassemia. Methods Five sets of primers were designed by ourselves to optimize the PCR reaction conditions. PCR and chip hybridization were used to detect three common deletions (--SEA, -α3.7, -α4.2) in Chinese based on the presence and absence of fluorescence signals. Alpha thalassemia. Results Three Chinese alpha-thalassemia deletions were successfully detected. The results were consistent with the results of Southern blotting and direct sequencing. Conclusion The method established in this study is accurate and reproducible, which is convenient for clinical sample analysis and screening of alpha thalassemia genes in the population.