[1]刘彦慧,吴亚敏,石少权,等.基于父源差异SNP位点的等位基因特异性实时荧光PCR方法建立及其在α0-地中海贫血无创产前诊断中的应用[J].陆军军医大学学报(原第三军医大学学报),2012,34(20):2082-2085.
 Liu Yanhui,Wu Yamin,Shi Shaoquan,et al.Non-invasive prenatal diagnosis for homozygous α0-thalassemia based on paternal different SNP with allele-specific real-time fluorescence PCR: establishment and application[J].J Amry Med Univ (J Third Mil Med Univ),2012,34(20):2082-2085.
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基于父源差异SNP位点的等位基因特异性实时荧光PCR方法建立及其在α0-地中海贫血无创产前诊断中的应用(/HTML )
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陆军军医大学学报(原第三军医大学学报)[ISSN:1000-5404/CN:51-1095/R]

卷:
34卷
期数:
2012年第20期
页码:
2082-2085
栏目:
论著
出版日期:
2012-10-30

文章信息/Info

Title:
Non-invasive prenatal diagnosis for homozygous α0-thalassemia based on paternal different SNP with allele-specific real-time fluorescence PCR: establishment and application
作者:
刘彦慧吴亚敏石少权娄季武马秋林何怡徐婉芳林洋洋周万军
东莞市妇幼保健院产前诊断中心;东华医院中心实验室;中山大学第五附属医院妇产科;南方医科大学基础医学院医学遗传学教研室
Author(s):
Liu Yanhui Wu Yamin Shi Shaoquan Lou Jiwu Ma Qiulin He Yi Xu Wanfang Lin Yangyang Zhou Wanjun
Center of Prenatal Diagnosis, Dongguan Maternal and Child Health Hospital, Dongguang, Guangdong Province, 523700; Laboratory Center, Donghua Hospital, Dongguan, Guangdong Province, 523220; Department of Gynecology and Obstetrics, Fifth Affiliated Hospital, Sun Yat-Sen University, Zhuhai, Guangdong Province, 519000; Department of Genetics, College of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong Province, 510515, China
关键词:
α-地中海贫血无创产前诊断游离DNA基因缺失
Keywords:
α-thalassemia non-invasive prenatal diagnosis free DNA gene deletion
分类号:
R446.9;R556.61;R714.55
文献标志码:
A
摘要:
目的      建立并评价1种纯合α0-地中海贫血排除性无创产前诊断的等位基因特异性实时荧光PCR技术(AS-qPCR)。      方法      用PCR微测序技术,检测SEA高风险夫妇基因缺失区内9个SNP以确定双亲差异位点;然后以AS-qPCR技术检测孕妇血浆中父源差异SNP位点,判断父方是否将正常单倍型遗传给胎儿。      结果      167个家系中,160个家系找到1个或多个有双亲差异的SNP位点,检测率为98.16%;94例检测到父源性正常等位基因SNP而免于创伤性产前诊断,检出率57.67%;所有家系的绒毛或羊水基因检测结果与本方法的符合率为100%。      结论      采用AS-qPCR检测孕妇血浆游离DNA中双亲差异SNP位点的方法,在孕早期即可进行纯合α0-地中海贫血的排除性无创产前诊断,可使约50%高风险孕产妇免于创伤性产前诊断。
Abstract:
Objective      To establish and evaluate an allele-specific real-time fluorescence PCR (AS-qPCR) assay for non-invasive exclusive prenatal diagnosis of homozygous α0-thalassemia.       Methods      Among 9 SNPs within the SEA deletion range, the different SNPs between parents were determined with PCR micro-sequencing technology. The paternal SNP was detected in maternal plasma DNA with AS-qPCR to determine whether the paternal normal haplotype had been inherited to the fetus.       Results      Among 167 families, 160 were found to have one or more parents-different SNPs with the detection rates over 98.16%. The paternal normal SNPs were detected in 94 maternal plasma DNA. In this way, they avoided invasive prenatal diagnosis with a detection rate of 57.67%. These results were 100% coincidence with the results of CVS or amniocentesis.       Conclusion      Using AS-qPCR to detect the parents-difference SNPs in maternal plasma DNA in the early stage of gestation, is a non-invasive exclusive prenatal diagnosis of homozygous α0-thalassemia. This method can make about 50% high-risk pregnant women to avoid invasive prenatal diagnosis.

相似文献/References:

[1]彭佳,府伟灵,黄庆,等.N-乙酰半乳糖特异性植物凝素分离和富集胎儿有核红细胞[J].陆军军医大学学报(原第三军医大学学报),2007,29(08):708.
 PENG Jia,FU Wei-ling,HUANG Qing,et al.Isolation and enrichment of fetal nucleated red blood cells by using N-acetylgalactosamine-specific lectin[J].J Amry Med Univ (J Third Mil Med Univ),2007,29(20):708.

更新日期/Last Update: 2012-10-18