孕妇外周血血浆胎源性牙釉质蛋白基因和DYS19位点检测  

Amplifying fetal Amelogenin gene and DYS19 locus in maternal peripheral blood plasma

作　　者：李瓅[1,2] 陈辉[1] 郑红[1] 王雅莉[2] 

机构地区：[1]郑州大学基础医学院细胞生物学与医学遗传学教研室,郑州450001 [2]郑州市中心医院妇产科,郑州450007

出　　处：《郑州大学学报（医学版）》2009年第6期1212-1214,共3页Journal of Zhengzhou University(Medical Sciences)

摘　　要：目的:检测孕妇外周血血浆胎源性牙釉质蛋白(Amelogenin)基因和DYS19位点,探讨其对男性胎儿性别诊断的可能性与准确性,为伴性遗传病的产前诊断提供参考。方法:采集22例正常孕妇外周血2mL,以1例未婚无妊娠史女性为阴性对照、1例正常男性为阳性对照。提取血浆DNA作为PCR模板,以巢式PCR技术分别扩增Amelogenin基因和DYS19位点,并将实验结果与娩出后的新生儿实际性别比较。结果:孕妇外周血血浆中Amelo-genin基因检测与娩出后新生儿实际性别符合率为95.5%,DYS19位点检测符合率90.9%,2指标检测结果与胎儿实际性别符合率较高(kappa=0.909,P=0.088;kappa=0.820,P=0.120)。Amelogenin基因与DYS19位点检测的一致率为95.2%。结论:Amelogenin基因和DYS19位点预测胎儿性别符合率无差异。联合检测Amelogenin基因和DYS19位点,可以提高诊断结果的可信度。Aim:To investigate the possibility and accuracy of prenatal sex determination on male fetus with amplifying fetal Amelogenin gene and DYS19 locus from maternal blood plasma,so as to provide references for the prenatal diagnosis of sex-linked genetic disorders.Methods:2 mL peripheral blood was taken from each of the 22 pregnant women,with a negative control taken from an unmarried woman without pregnancy history and a positive control taken from a healthy male.Plasma DNA was extracted and used as PCR templat...

关 键 词：非创伤性产前诊断 血浆DNA 牙釉质蛋白基因 DYS19 

分 类 号：R714.52[医药卫生—妇产科学]