半导体基因测序技术筛查地中海贫血的临床应用价值

发布时间：2018-03-05 17:50

本文选题：地中海贫血　切入点：半导体基因测序技术　出处：《实用医学杂志》2017年07期 　论文类型：期刊论文

【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。
[Abstract]:Objective: To investigate the application value of semiconductor sequencing technology in gene screening for thalassemia. Methods: venous blood collection of 197 cases of patients were prospectively randomly selected as samples; samples of 200 cases clinically diagnosed as previous samples. At the same time were detected and analyzed by the semiconductor sequencing technology and PCR technology, the comparison of two kinds of difference detection method. Results: a prospective sample, PCR detection of thalassemia gene mutation in 22 cases, of which 18 cases of mutations of alpha, beta mutation in 3 cases, 1 cases with alpha beta mutation; gene sequencing technology in the semiconductor found more loci, the other found a rare type of Mediterranean anemia in 6 cases the previous sample. A total of 200 cases, of which 118 cases of mutations of alpha, beta mutation in 65 cases, with alpha beta mutations in 17 cases, using semiconductor sequencing technology another mutation was found in 1 cases. The results of statistical analysis showed that PCR and semiconductor technology Gene sequencing technology total coincidence rate was 98.5% (Kappa=0.97 = 0.8). Conclusion: semiconductor sequencing technology can not only cover all sites PCR can be detected, and rare genes could be detected in thalassemia mutations, and low detection cost, low price of instrument, is conducive to thalassemia screening.

【作者单位】：广东医科大学医学检验系;广东省东莞市妇幼保健院产前诊断中心;广东省东莞市博奥木华基因科技有限公司;
【基金】：东莞市社会科技发展项目(编号:2013108101019,20161081101023)
【分类号】：R440;R556.61

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