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目的检测孕妇血浆胎儿 DNA 的父源性东南亚缺失型α地中海贫血1(SEAα地贫1)基因突变,进行无创伤性产前基因诊断。方法应用荧光聚合酶链反应(PCR)和基因扫描方法分析10例孕妇血浆胎儿 DNA 的父源性 SEAα地贫1基因突变及短串联重复序列(STR);同时以常规的绒毛、羊水或脐血胎儿 DNA 的基因诊断结果作对照。结果 10例孕妇血浆胎儿 DNA 均检测到父源性STR 等位基因。有4例检出父源性 SEAα地贫1基因突变;6例未检出父源性 SEAα地贫1基因突变,与常规的绒毛、羊水或脐血胎儿 DNA 的产前基因诊断结果一致。结论应用荧光 PCR 和基因扫描方法检测孕妇血浆胎儿 DNA 的父源性 SEAα地贫1基因突变,可排除血红蛋白 H 病胎儿。
Objective To detect the mutation of paternal-derived deletion of alpha-thalassemia-1 (SEA-alpha-thalassemia) gene in maternal plasma fetal DNA for non-invasive prenatal diagnosis. Methods The genetic mutations and short tandem repeats (STRs) of paternal SEAα thalassemia gene in 10 pregnant women with plasma fetal DNA were analyzed by fluorescence polymerase chain reaction (PCR) and gene scanning methods. At the same time, routine hair loss, amniotic fluid or cord blood Fetal DNA gene diagnosis as a control. Results Fetal-derived STR alleles were detected in 10 fetuses with plasma fetal DNA. Four cases of paternal SEAα thalassemia mutations were detected in 4 cases; 6 cases of paternal SEAα thalassemia mutations were not detected, consistent with the results of prenatal genetic diagnosis of conventional villus, amniotic fluid or cord blood fetal DNA. Conclusions Mutations in the parental SEAα thalassemia gene of maternal plasma DNA can be detected by fluorescence PCR and gene-scanning, and fetal hemoglobin H can be excluded.