利用NGS技术同时检测缺失和点突变型地中海贫血

Simultaneous detection of deletion and point mutation thalassemia using NGS technology

目的建立一种跨越断裂点PCR(Gap-PCR)结合下一代测序技术的地中海贫血基因检测方法。方法对地中海贫血核酸国家参考品进行PCR扩增,PCR产物进行高通量测序。结果 32例国家参考品涉及的3种α突变型别,16种β突变型别,4种α缺失型别,2种β缺失型别全部检出,均与原型别一致。结论本研究通过建立基于Gap-PCR结合下一代测序技术检测地贫的方法进一步完善了遗传病基因诊断方法,对遗传病的携带人群筛查,优生优育咨询,防止出生缺陷等方面具有重要意义。

Objective To establish a method for detecting thalassemia with combined Gap-PCR and next-generation sequencing technology. Methods 32 cases of national reference of thalassemia were amplified by Gap-PCR,and the PCR products were subjected to high-throughput sequencing. Results 3 mutation types of alpha-thalassemia,16 mutation types of beta-thalassemia,4 deletion types of alpha-thalassemia and 2 deletion types of beta-thalassemia were detected,which were consistent with the prototype.Conclusion The genetic diagnosis method of genetic diseases by establishing Gap-PCR combined with nextgeneration sequencing technology to detect thalassemia will further improved in this study. It is of great significance for screening of genetically transmitted populations,eugenics and counseling and prevention of birth defects.