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α<sup>0</sup>-地中海贫血无创产前诊断中的应用

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

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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

论著 | 更新时间：2026-01-09

- 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
- Non-invasive prenatal diagnosis for homozygous α⁰-thalassemia based on paternal different SNP with allele-specific real-time fluorescence PCR: establishment and application
- 陆军军医大学学报 2012年34卷第20期页码：2082-2085
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  中图分类号： R446.9;R556.61;R714.55
- 纸质出版：2012
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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.

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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

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

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摘要

Abstract

关键词

Keywords

references

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

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