利用孕妇血浆中的胎儿DNA进行β-地中海贫血的产前诊断  

Prenatal diagnosis of β-thalassaemia using cell-free fetal DNA in maternal plasma

作　　者：李广华[1] 荣卡彬[1] 罗燕飞[1] 陈冬[1] 龚彩平[1] 吴劲[1] 邸玉玮[1] 葛艳芬[1] 

机构地区：[1]广东省人民医院/广东省医学科学院检验科,广东广州510080

出　　处：《南方医科大学学报》2011年第8期1437-1439,共3页Journal of Southern Medical University

基　　金：广东省医学科研课题(A2008028)

摘　　要：目的利用孕妇血浆中游离胎儿DNA(cffDNA)对广东省最常见17种β地中海贫血的突变基因进行扩增,探讨非创引个伤常性物见产,对位前c点诊ffD和断Nβ9A-个地进少中行见海二位贫次点血P突C的R变可,反的行向共性斑。17点方种杂法β地交贫技①基术羊因检水;测途②β径抽地:取中抽孕海取妇贫孕外血妇周的羊血突水,变共柱基9分例因离,。采法结用提果反取向及9例斑凝孕点胶妇杂回中交收有技纯5术化例检D经N测羊A中,水设国检计人测群3对证8实胎儿有父系的β地贫基因,有2例孕妇外周血中检测到胎儿(父系)β地贫基因,与羊水检测相符。结论利用cffDNA进行β-地中海贫血的检测方法可行,但由于母源性DNA背景的污染,以及胎儿DNA因含量而导致检出率低,希望进一步改进该技术后有望可用于β-地中海贫血的诊断。Objective To investigate the clinical feasibility of cell-free fetal DNA（cffDNA）-based noninvasive prenatal diagnosis of β-thalassemia.Methods Nine samples of amniotic fluid were obtained to detect the 8 common and 9 relatively rare mutation sites of β-thalassaemia in Guangdong Province.The maternal blood samples were also collected for extracting and purification of the cffDNA,and a duplex PCR was performed using 3 pairs of primers and the fetal β-globin genotype was analyzed by reverse dot-blot hybridization.Results Among the 9 cases,5 showed fetal genotypes of β-thalassemia inherited from the father by examination of the amniotic fluid,and 2 fetuses were identified to have β-thalassemia genes inherited from the father determined based on the cffDNA in the maternal blood.Conclusion The cffDNA-based noninvasive prenatal diagnosis is feasible for β-thalassemia,but the contamination of the maternal background DNA results in a low detection rate.

关 键 词：Β地中海贫血 游离胎儿DNA 反向斑点杂交 

分 类 号：R714.5[医药卫生—妇产科学]