[1]李瓅))△,陈辉),郑红)#,等.孕妇外周血血浆胎源性牙釉质蛋白基因和DYS19位点检测[J].郑州大学学报(医学版),2009,(06):1212-1214.
 LI Li),),CHEN Hui),et al.Amplifying fetal Amelogenin gene and DYS19 locus in maternal peripheral blood plasma[J].JOURNAL OF ZHENGZHOU UNIVERSITY(MEDICAL SCIENCES),2009,(06):1212-1214.
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孕妇外周血血浆胎源性牙釉质蛋白基因和DYS19位点检测 ()
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《郑州大学学报(医学版)》[ISSN:1671-6825/CN:41-1340/R]

卷:
期数:
2009年06期
页码:
1212-1214
栏目:
论著
出版日期:
2009-11-01

文章信息/Info

Title:
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)
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 4500012)郑州市中心医院妇产科 郑州 450007
Author(s):
LI Li1) 2) CHEN Hui1) ZHENG Hong1)WANG Yali2)
1) Department of Cell Biology and Medical Genetics, College of Basic Medical Sciences, Zhengzhou University, Zhengzhou 4500012)Department of Obstetrics and Gynecology, Zhengzhou Central Hospital, Zhengzhou 450007
关键词:
非创伤性产前诊断血浆DNA牙釉质蛋白基因DYS19
Keywords:
noninvasive prenatal diagnosisplasma DNAAmelogenin geneDYS19 locus
分类号:
R714.52
摘要:
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2 mL,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Amelogenin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。
Abstract:
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 sexlinked 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 template. Nested PCR was performed to amplify Amelogenin gene and DYS19 locus. Experimental sex prediction results were compared with the real sex of the newborns after delivery.Results: The successful rate of Amelogenin prediction for fetal gender determination was 95.5% and that of DYS19 was 90.9%, respectively((kappa=0.909,P=0.088;kappa=0.820,P=0.120).Conclusion:There is no difference between Amelogenin and DYS19 for fetal gender predictions. The joint applications of the two indicators for prenatal gender diagnosis would be able to enhance the credibility.

参考文献/References:

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备注/Memo

备注/Memo:
△女,1977年生,硕士,主治医师,研究方向:基因多态性与优生优育、妇科肿瘤防治,Email:zzsylili@163.com #通讯作者,女,1967年生,博士,教授,研究方向:遗传性疾病致病基因的筛选与研究,Email:hzheng@zzu.edu.cn
更新日期/Last Update: 2010-05-14