半导体基因测序技术筛查地中海贫血的临床应用价值  

Clinical application of semiconductor gene sequencing in screening thalassemia

作　　者：杨茜 娄季武[2] 赵颖[2] 付有晴 巫静帆 何怡[2] 吴春求 周光纪 刘彦慧[2] 

机构地区：[1]广东医科大学医学检验系,广东省东莞市523000 [2]广东省东莞市妇幼保健院产前诊断中心,523000 [3]广东省东莞市博奥木华基因科技有限公司,523808

出　　处：《实用医学杂志》2017年第7期1156-1160,共5页The Journal of Practical Medicine

基　　金：东莞市社会科技发展项目(编号:2013108101019;20161081101023)

摘　　要：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 feasibility of semiconductor gene sequencing technology for thalassemia clinical screening and evaluate its application as compared with the results of PCR technology. Methods 197 visiting patients were randomly selected as prospective samples and200 patients ever diagnosed with thalassemia as previous samples. All the samples were detected by semiconductor technology gene sequencing and PCR technology at the same time and then evaluation of the advantage of semiconduetor gene sequencing technology. Results 22 cases of 197 prospective samples were detected as thalassemia mutations by PCR technology, including 18 cases of α-thalassemia, 3 cases of β-thalassemia, 1 case of α merge β thalassemia mutations. Semiconductor technology gene sequencing detected another 6 cases of rare type of thalassemia. By semiconductor gene sequencing technology on previous samples, 118 cases of α-thalassemia, 65 cases of β- thalassemia, 17 case of α merge β thalassemia mutations, 1 case of thalassemia mutations （HBAI： c.223G 〉 C） were detected. By statistical analysis, the total coincidence rate of PCR technology and semiconductor gene sequencing was 98.5%, withthe Kappa = 0.97（≥ 0.8）. Conclusion Semiconductor gene sequencing technology for thalassemia clinical screening is feasible, for it can detect both thalassemia gene type, and new mutation. The results of semiconductor gene sequencing technology are accurate and the technology could be popularized in clinical application,

关 键 词：地中海贫血 半导体基因测序技术 PCR技术 

分 类 号：R440[医药卫生—诊断学] R556.61[医药卫生—临床医学]