α地中海贫血产前羊水基因诊断  

Prenatal gene diagnosis of alpha thalassemia

作　　者：沈湘[1] 罗桂香[1] 陈碧[1] 庞江琳[1] 孙显斌[1] 

机构地区：[1]广东医学院附属医院妇产科,广东湛江524001

出　　处：《广东医学院学报》2003年第2期111-112,共2页Journal of Guangdong Medical College

摘　　要：目的 :研究聚合酶链反应 (PCR)技术在 α地中海贫血产前诊断中的应用价值。方法 :用跨越断裂点聚合酶链反应 (gap- PCR)技术 ,对 7对双方均为 α地中海贫血 1基因杂合子的夫妻的胎儿进行产前羊水基因诊断 ,PCR扩增产物中只有 10 5 2 bp片断为正常胎儿 ,只出现 74 0 bp片断的为α地中海贫血 1基因纯合子 ,出现 10 5 2 bp和 74 0 bp两个片断的为α地中海贫血 1基因杂合子。结果 :7例胎儿中 1例为正常胎儿 (αα/αα) ,2例为杂合子 (- - /αα) ,4例为纯合子 (- - / - - ) (该 4例均由 B超检查发现胎儿水肿 ,后经基因诊断 )。结论 :用 gap- PCR技术行产前羊水基因检测能快速。Objective:To evaluate whether gap PCR is apt to be used in prenatal diagnosis of alpha thalassemia.Methods:Amniotic fluid was detected by gap PCR in 7 fetuses whose parents were both alpha thalassemia 1 heterozygotes.Fetus presenting 1025 bp fragment in PCR product was referred to as a normal fetus,740 bp as a homozygote,and both 1025 bp and 740 bp fragments as a heterozygote.Results:Of 7 fetuses,normal fetus (α α/α α),heterozygotes( /α α)and homozygotes( / )were 1,2,and 4,respectively.Four cases with fetus edema suspected by ultrasound were testified to be homozygotes by gap PCR.Conclusion:PCR is a rapid and accurate method for prenatal diagnosis of alpha thalassemia.

关 键 词：Α地中海贫血 产前诊断 聚合酶链反应 羊水 基因 

分 类 号：R722.1[医药卫生—儿科]