应用Rh阴性孕妇外周血胎儿游离DNA进行RhD血型产前基因诊断  

Detection of fetal RHD genotyping with fetal DNA from RhD-negative maternal plasma

作　　者：王学东[1] 王保龙[1] 王兰芳[2] 廖艳秋[1] 沈建军[1] 叶书来[1] 

机构地区：[1]安徽医科大学附属省立医院输血科,合肥230001 [2]安徽省合肥市妇幼保健院检验科

出　　处：《中华围产医学杂志》2007年第6期370-374,共5页Chinese Journal of Perinatal Medicine

基　　金：安徽省卫生厅临床医学重点研究项目（项目编号：06B053）

摘　　要：目的探讨利用Rh阴性孕妇血浆中游离胎儿DNA进行无创性产前诊断胎儿RhD血型的方法。方法通过SRY基因确定胎儿DNA的存在，采用PCR-SSP技术对32例妊娠11～40周的单胎RhD阴性孕妇血浆中胎儿游离DNA进行RHD基因外显子5、7、10和内含子4的特异性扩增，其基因型结果与产后新生儿脐血血清学检测结果进行对比性分析，回顾性评价胎儿基因分型结果的准确性。结果32例样本中，28例基因定型结果与血清学表型相符，准确率达到87．5％，通过检测RHD1227A等位基因鉴定了RhD放散型，使结果达到93．75％（30／32）的准确率。结论利用Rh阴性孕妇血浆中游离胎儿DNA进行无创性诊断胎儿RhD血型，是一种简便、快速且无损伤性的产前基因诊断的可行性方法，可用于新生儿溶血病的预防和诊断，值得临床推广应用。Objective To explore a method for pretanal diagnosis of fetal RHD genotyping with free fetal DNA in RhD-negative maternal plasma. Methods The existence of fetal DNA was confirmed by amplified fetal SRY gene. The fetal RHD gene was amplified from 32 RhD negative singleton maternal plasma （11--40 gestational weeks）. Exon 5,7,10 and intron 4 can be successfully amplified by polymerase chain reaction-sequence specific prime. The results of fetal RHD genetyping were evaluated retrospectively by the serologic analysis of cord blood. Results Among the 32 specimens, 28 cases were confirmed as accurate through serological measure of fetal umbilic blood after delivery. The detection rate was 87. 5%. RhDel phenotype was assessed by detecting RHD1227A allele gene. The final accuracy rate was 93.75% （30/32）. Conclusions The method of using fetal DNA in RhD-negative maternal plasma for noninvasive prenatal diagnosis of fetal RhD blood type is a simple,quick and specific non-invasive way for prenatal gene diagnosis and prevention of hemolytic disease of newborn.

关 键 词：RH-HR血型系统 产前诊断 

分 类 号：R4[医药卫生—临床医学] R714