基于基因拷贝数的缺失型α地中海贫血检测体系研究  

Study on the deletional alpha thalassemia detection system based on the number of copies of genes

作　　者：吕姗 王太重[2] 覃茜[3] 李佳 陈发钦[4] Lü Shan;WANG Taizhong;QIN Qian;LI Jia;CHEN Faqin(Department of Obstetrics and Gynecology,Affiliate Hospital of Youjiang Medical University For Nationalities,Baise 533000,China;不详)

机构地区：[1]右江民族医学院附属医院妇产科,广西百色533000 [2]右江民族医学院医学检验学院,广西百色533000 [3]百色市妇幼保健院遗传实验室,广西百色533000 [4]右江民族医学院,广西百色533000

出　　处：《实用医学杂志》2020年第8期1107-1110,共4页The Journal of Practical Medicine

基　　金：国家自然科学基金项目(编号:81760615)。

摘　　要：目的建立并评价基于α珠蛋白基因拷贝数变化的缺失型α地中海贫血检测体系。方法建立三重TapMan实时荧光定量PCR检测体系,结合2^-△△ct相对定量分析的原理,根据缺失型α地中海贫血分子机制中α珠蛋白基因和看家基因的拷贝数比例差异,快速诊断α地中海贫血基因拷贝数。以本研究建立的方法检测69例已知α地中海贫血基因型标本和100例临床标本,并通过Gap-PCR+MLPA技术进行验证,评价该方法的敏感度与特异度。结果本研究建立的检测体系对100例临床标本进行α地中海贫血基因型的检测,敏感度和特异度均为100%;临床常规检测方法的特异度为100%,敏感度只有96%。结论本研究建立的检测体系敏感度高,特异性好,能够检测临床常规检验方法未检出的非常见型α地中海贫血基因型,减少或避免出生缺陷,优生优育。ObjectiveTo establish and evaluate the deletional alpha-thalassemia detection system based on changes in the number of copies of alpha globingene.MethodsTo establish a triple TapMan real-time fluorescence quantitative PCR detection system,combined with the principle of relative quantitative analysis of 2^-△ △ ct,and to quickly diagnose the number of copies of alpha thalassemia gene,according to the difference of the proportion of alpha globin gene and the number of copies of the donor gene. To detect 69 samples which alpha thalassemia genotype has known,and 100 clinical samples using the method established by our study. The sensitivity and specificity of the method were evaluated by Gap-PCR-MLPA.ResultsThe sensitivity and specificity of detection system established in our study are all 100%. The specificity of clinical routine testing methods is also 100%. But,the sensitivity of clinical routine testing method is only 96%.Conclusion The specificity of detection system established in our study is the same as the specificity of clinical routine testing methods. But,the sensitivity of our method is higher than that of the clinical routine testing methods.

关 键 词：地中海贫血 非常见缺失型基因突变 三重TapMan实时荧光定量PCR 

分 类 号：R715.5[医药卫生—妇产科学]