应用单管多重PCR诊断缺失型α-地中海贫血  

Application of single-tube multiplex PCR deletion α-thalassemia diagnosis

作　　者：阮丽明[1] 周艳洁[1] 朱茂灵 丁进龙 梁萧[1] 何桂琼[1] 

机构地区：[1]广西南宁市人口和计划生育服务中心,广西南宁530022

出　　处：《中国优生与遗传杂志》2013年第11期24-25,45,共3页Chinese Journal of Birth Health & Heredity

基　　金：广西区卫生厅课题(编号:Z.2010014)

摘　　要：目的探讨应用单管多重PCR对缺失型α地中海贫血进行诊断,并了解-SEA、-α3.7、-α4.2三种缺失型在广西南宁农村地区人群中的分布情况。方法对466例用血液学参数分析初筛为α地中海贫血患者进行基因诊断。结果初筛为α地中海贫血466例临床标本,基因检测证实326例为α地中海贫血。在326例α地中海贫血患者中,--SEA/αα197例、-α3.7/αα64例、-α4。2/αα50例,占60.43%、19.63%和15.34%。与PCR检测相比,MCV、MCH和HbA2检测的灵敏度分别为86.20%、79.45%、77.61%;检测特异度分别89.29%、66.43%、71.14%。结论与血液学检测方法相比,单管多重PCR检测具有快速、准确的优点,可用于大面积人群和临床样品的缺失型α-地中海贫血的分子流行病学调查及产前诊断。Objective ： Discussion on Application of single - tube multiplex PCR deletion α - thalassemia diagnostics, and under- stand the - SEA, -α3.7 , -α4.2 three deletion in Guangxi rural area of Nanning population distribution. Methods ： In 466 patients with hematological parameters analysis of screening for alpha thalassemia gene diagnosis. Result： Screening for α - thalassemia clinical specimens of 466 cases, 326 cases were confirmed by gene detection of α - thalassemia. In 326 cases of α - thalassemia patients, 197 cases of - - SEA/αα -- α3.7/αα 64 cases, -- α4.2/αα 50 cases, accounted for 60. 43% , 19.63% and 15.34%. Compared with PCR detection, sensitivity of MCV, MCH and HbA2 detection were 86. 20% , 79. 45% , 77.61% ; Detection specificity were ＇ 89. 29%, 66. 43%, 71.14%. Conclusion： Compared with the blood detection method, detection of single -tube multiplex PCR has the advantages of rapid, accurate, Can be used for molecular epidemiological survey and prenatal diagnosis of deletion type α- large crowds and clinical samples of Mediterranean anemia.

关 键 词：缺失型Α-地中海贫血 单管多重PCR 基因诊断 

分 类 号：R556.61[医药卫生—血液循环系统疾病]