Non-invasive prenatal diagnosis for homozygous α<sup>0</sup>-thalassemia based on paternal different SNP with allele-specific real-time fluorescence PCR: establishment and application

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

您当前的位置：

首页 >

文章列表页 >

Non-invasive prenatal diagnosis for homozygous α⁰-thalassemia based on paternal different SNP with allele-specific real-time fluorescence PCR: establishment and application

更新时间：2026-01-09

- Non-invasive prenatal diagnosis for homozygous α⁰-thalassemia based on paternal different SNP with allele-specific real-time fluorescence PCR: establishment and application
- Journal of Army Medical University Vol. 34, Issue 20, Pages: 2082-2085(2012)
- 作者机构：
- 作者简介：
- 基金信息：
- DOI：
  CLC： R446.9;R556.61;R714.55
- Published：2012
- 稿件说明：
移动端阅览
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.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,Lou Jiwu,Ma Qiulin,He Yi,Xu Wanfang,Lin Yangyang,Zhou Wanjun.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.
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.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. DOI：

　Liu Yanhui,Wu Yamin,Shi Shaoquan,Lou Jiwu,Ma Qiulin,He Yi,Xu Wanfang,Lin Yangyang,Zhou Wanjun.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. DOI：

摘要

目的建立并评价1种纯合α

-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α

-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 α

-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 α

-thalassemia. This method can make about 50% high-risk pregnant women to avoid invasive prenatal diagnosis.

关键词

Keywords

references

Views

下载量

CSCD

Alert me when the article has been cited

提交

Tools

Publicity Resources

Genotypes and clinical characteristics of α-thalassemia of neonates in Qingyuan City, Guangdong

Isolation and enrichment of fetal nucleated red blood cells by using N-acetylgalactosamine-specific lectin

Related Author

黄利华

刘冬霞

李伟明

李扬秋

彭佳

府伟灵

黄庆

王珏

Related Institution

No data

⁰

Non-invasive prenatal diagnosis for homozygous α0-thalassemia based on paternal different SNP with allele-specific real-time fluorescence PCR: establishment and application

DOI：

摘要

Abstract

关键词

Keywords

references

Non-invasive prenatal diagnosis for homozygous α⁰-thalassemia based on paternal different SNP with allele-specific real-time fluorescence PCR: establishment and application