【摘要】 目的　建立一种准确快速并能同时检测中国人 3种常见缺失型 α-地中海贫血 (简称 α-地贫 )的聚合酶链式反应 ( PCR)技术并应用于产前 α-地贫的人群筛查和高危胎儿的产前诊断中。　方法　采用跨越断裂点 PCR( gap- PCR)方案设计 3组 PCR引物 ,并对 PCR反应条件进行优化以扩增代表这 3种 α-地贫存在的特异性 DNA片段。应用血液学分析法对孕妇及其配偶各 6 135例进行 α-地贫表型的初筛 ,gap- PCR法用于 α-地贫表型阳性病例的确诊和 32例 α-地贫高风险胎儿的产前诊断。　结果　一次 PCR同时成功地检出 3种 α-地贫的纯合子、杂合子或双重杂合子 ;孕妇及其配偶中共筛出 5 4 1例携有 - - SEA突变基因 ,及其 Hb Bart s和 Hb H病的高风险胎儿 17例和 15例 ,并对其中的 31例进行了产前诊断 ,5例 Hb Bart s水肿胎儿和 4例 Hb H病胎儿被终止妊娠。　结论　该法简便快速、准确可靠、重复性好 ,适合于人群筛查时检出 α-地贫携带者和高风险重症 α-地贫胎儿的产前诊断更多还原

【Abstract】 Objective To establish a rapid and accurate polymerase chain reaction(PCR) based methd for detection of three commonest deletional α thalassemias at the same time in China and apply it to antenatal large scale carrier screening and the prenatal diagnosis. Methods Three groups of primers were designed on basis of gaq PCR and the PCR reaction conditions were optimized on the purpose of amplifying effectively peculiar DNA fragments indicating respective genotypes of the deletional α thalassemias.A total of 6 135 Couples of pregnant women and their mates were screened preliminarily for α thalassemia determinants with hematological method, then the cases of positive phenotypes for α thalassemias was verified and prenatal diagnosis was carried out in 32 fetuses of risk of α thalassemias with gap PCR method established by us. Results Homozygous and heterozygous as well as double heterozygous of the three commonest deletional α thalassemias were successfully detected simultaneously.Seventeen and fifteen fetuses at high risk of HbBart’s hydrop and HbH disease respectively were screened in 6 135 pregnant women of Zhuhai city.Prenatal diagnosis was carried out successfully by our developed PCR technique in 31 fetuses of risk of α thalassemia major.Five and four fetuses with HbBart’s hydrop and HbH disease were diagnosed respectively and termination of pregnancy were offered within two weeks after diagnosis. Conclusion This easy and accurate and reproducible three PCR based assays developed in our lab is suitable for identifying α thalassemia carriers in screenings of large populations and for antenataldiagnosis of feuses at high risk of α thalassemia major.更多还原