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目的探讨珠蛋白生成障碍性贫血基因诊断项目室内阳性质控品的制作方法及可行性。方法选取经血型测定、血常规、血红蛋白电泳、珠蛋白生成障碍性贫血基因检测及临床资料分别确诊为--SEA/αα、HbCS杂合子、CD41-42(-TTCT)杂合子的同血型血标本各5～10份,将同基因型的血标本混匀,作为阳性质控品,分装成每管0.1 mL,每次进行珠蛋白生成障碍性贫血基因检测时,取相应的阳性质控品与待测标本同时抽提DNA、PCR扩增、PCR产物分析,从而对珠蛋白生成障碍性贫血基因检测全过程进行质量监控。结果对近5 500余人次的血标本进行珠蛋白生成障碍性贫血基因检测过程中均使用了阳性质控品进行质量监控。在进行缺失型α-珠蛋白生成障碍性贫血基因检测时,有2次检测中均各有一待测标本无电泳条带,阳性质控品和其他待测标本均有电泳条带。点突变型α-珠蛋白生成障碍性贫血和β-珠蛋白生成障碍性贫血的检测过程中未出现失控。结论本阳性质控品制备方法简单、使用方便、成本低、结果稳定,达到对珠蛋白生成障碍性贫血基因诊断过程中有效质量控制的预期目的,适合在临床开展珠蛋白生成障碍性贫血基因诊断项目的实验室推广应用。
Objective To investigate the method and feasibility of establishing a laboratory positive control substance for genetic diagnosis of globinosis. Methods The blood samples, hemoglobin electrophoresis and gene analysis of haemoglobin electrophoresis and globin aplastic anemia were selected as the blood samples, and the blood samples of the same blood type of --SEA / αα, HbCS heterozygotes and CD41-42 (-TTCT) heterozygotes were diagnosed respectively Each 5 to 10 copies of the same type of blood sample mix, as a positive control, aliquoted into each tube 0.1 mL, each time the gene for genetic testing for globinosis, take the appropriate positive control DNA is extracted simultaneously with the specimen to be tested, and PCR amplification and PCR product analysis are performed to monitor the quality of the whole process of genetic testing for globin aplasia. Results The positive control substances were used for quality control during the genetic testing of globinosis-causing anemia in nearly 5 500 blood samples. In the absence of alpha-globin a-thalassemia gene test, there are two tests were in each test specimens without electrophoresis bands, positive control and other test specimens have electrophoresis bands. There was no loss of control during the detection of point-mutated alpha-globin a-thalassemia and beta-thalassemia. Conclusion The preparation method of this positive control substance is simple, easy to use, low cost and stable in result, and achieves the expected goal of effective quality control in the gene diagnosis of global anaerobic anemia. It is suitable for the clinical diagnosis of gemcitabine anemia gene The project’s laboratory promotion and application.