采用Amplicon文库构建法对地中海贫血的基因检测

发布时间：2017-12-30 20:14

  本文关键词：采用Amplicon文库构建法对地中海贫血的基因检测　出处：《分子诊断与治疗杂志》2016年06期 　论文类型：期刊论文

  更多相关文章： 地中海贫血 基因检测 Amplicon文库构建 β-突变 α-缺失

【摘要】：目的进一步完善现有地中海贫血的检测方法并且建立一种新的基于高通量测序的基因诊断方法,研究α/β地中海贫血基因的突变类型及分布情况。方法采用Amplicon文库构建法,基于高通量测序平台,对219例地中海贫血患者全血样本进行上机测序与数据分析。结果在219例地中海贫血患者中,共计检测出14种突变类型,包括CD122、CD125、CD142 3种非缺失型α-地贫突变及IVS-Ⅱ-654、CD41-42、CD17等11种常见β-地贫突变型别。此外,通过生物信息学软件作图分析,筛查出--~(SEA)、-α~(3.7)、-α~(4.2)3种缺失型α-地贫。结论本研究进一步完善了基于高通量测序的基因诊断方法,建立了一套Amplicon文库构建法,能准确、有效地用于诊断α/β地中海贫血基因的缺失与突变类型,对人群筛查,优生优育的遗传咨询,防止该病重症患儿的出生等具有重要意义。
[Abstract]:Objective to improve the existing detection methods of thalassemia and to establish a new gene diagnosis method based on high-throughput sequencing. Methods to study the mutation type and distribution of 伪 / 尾 thalassemia gene. Methods Amplicon library construction method was used and high throughput sequencing platform was used to study the mutation type and distribution of 伪 / 尾 thalassemia gene. The whole blood samples of 219 patients with thalassemia were sequenced and analyzed. Results 14 mutation types including CD122 were detected in 219 patients with thalassemia. There were 11 common 尾 -thalassemia mutations such as CD125, CD142 and IVS- 鈪，

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