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目的:探讨半导体基因测序技术在地中海贫血基因筛查中的应用价值。方法:采集随机就诊者的静脉血197例作为前瞻性样本;随机选择临床确诊样本200例作为既往样本。同时采用半导体基因测序技术和PCR技术进行检测与分析,比较两种检测方法结果的差异。结果:前瞻性样本中,PCR技术检出地中海贫血基因突变共22例,其中α-突变18例,β-突变3例,α合并β-突变1例;采用半导体基因测序技术除检出以上基因位点外,另发现罕见型地中海贫血6例。既往样本共200例,其中α-突变118例,β-突变65例,α合并β-突变17例,采用半导体基因测序技术另发现突变位点1例。统计分析结果显示,PCR技术与半导体基因测序技术总符合率为98.5%,Kappa=0.97(≥0.8)。结论:半导体基因测序技术不仅能够覆盖PCR技术能检测到的所有位点,而且可检测到地中海贫血的罕见基因突变位点,且检测成本低,仪器价格低廉,有利于地中海贫血的普查。
Objective: To investigate the value of semiconductor gene sequencing in the screening of thalassemia genes. Methods: A total of 197 cases of venous blood collected from randomized patients were selected as prospective samples. 200 clinically confirmed samples were randomly selected as the previous samples. At the same time using semiconductor gene sequencing technology and PCR technology for detection and analysis, comparing the difference between the two detection methods. RESULTS: In the prospective sample, there were 22 cases of thalassemia gene mutation detected by PCR, of which 18 cases were α-mutation, 3 cases were β-mutation and 1 case was α-merged with β-mutation. In addition to using the semiconductor gene sequencing technology, In addition, there were 6 cases of rare thalassemia. A total of 200 cases of previous samples, including 118 cases of α-mutation, β-mutation in 65 cases, α-merger β-mutation in 17 cases, the use of semiconductor gene sequencing technology found another mutation in 1 case. Statistical analysis showed that the total coincidence rate of PCR technology and semiconductor gene sequencing technology was 98.5%, Kappa = 0.97 (≥0.8). CONCLUSIONS: Semiconductor gene sequencing technology can not only cover all loci detected by PCR, but also detect rare genetic mutation sites of thalassemia with low detection cost and low instrument cost, which is beneficial to the screening of thalassemia.