微滴式数字PCR技术及其在产前诊断中的应用

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摘要微滴式数字PCR(ddPCR)技术是一种新型核酸检测方法,通过将含有靶分子的反应体系均分到大量独立的反应单元进行扩增,并根据阳性比例和泊松分布原理对靶分子进行绝对定量分析。与传统PCR技术相比,ddPCR具有高灵敏度、高精确度及绝对定量等优点,近年来得到迅速发展,广泛应用于肿瘤、微生物等检测等领域。本文主要在介绍ddPCR基本原理的基础上重点概述其在染色体及单基因遗传病等产前诊断领域的应用进展。

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	刘广宝
	康冉冉
	王丽
	高媛

关键词 ：微滴式数字PCR, 产前诊断, 染色体非整倍体, 单基因遗传病

收稿日期: 2020-03-09

ZTFLH:

R71

基金资助:山东省自然科学基金(ZR2018MC014,ZR2018PH006)

通讯作者: 高媛(gaoyuan@sduivf.com)

引用本文:

刘广宝, 康冉冉, 王丽, 高媛. 微滴式数字PCR技术及其在产前诊断中的应用[J]. 中国生育健康杂志, 2022, 33(3): 293-296.

链接本文:

http://cjrh.bjmu.edu.cn/CN/ 或 http://cjrh.bjmu.edu.cn/CN/Y2022/V33/I3/293

1 Wong YK,Tsang HF,Xue VW,et al.Development of PCR technology.Expert Rev Precis Med Drug Dev,2017,2:177-186.
2 Demeke T,Dobnik D.Critical assessment of digital PCR for the detection and quantification of genetically modified organisms.Anal Bioanal Chem,2018,410:4039-4050.
3 Day E,Dear PH,McCaughan F.Digital PCR strategies in the development and analysis of molecular biomarkers for personalized medicine.Methods,2013,59:101-107.
4 Kuypers J,Jerome KR.Applications of digital PCR for clinical microbiology.J Clin Microbiol,2017,55:1621-1628.
5 Denis JA,Perrier A,Nectoux J,et al.Development of molecular analysis by digital PCR for clinical practice:positioning,current applications and perspectives.Ann Biol Clin (Paris),2019,77:619-637.
6 Li H,Bai R,Zhao Z,et al.Application of droplet digital PCR to detect the pathogens of infectious diseases.Biosci Rep,2018,38:10.
7 Manoj P.Droplet digital PCR technology promises new applications and research areas.Mitochondrial DNA A DNA Mapp Seq Anal,2016,27:742-746.
8 王琦,范颖.微滴式数字PCR技术进展.中国医学前沿杂志(电子版),2016,8:15-19.
9 杨德平,刘维薇.数字PCR技术在临床诊断中的应用进展.临床检验杂志,2016,34:785-787.
10 Jelin AC,Sagaser KG,Wilkins-Haug L.Prenatal genetic testing options.Pediatr Clin North Am,2019,66:281-293.
11 刘聪,蒋克明,周武平,等.微滴技术的数字PCR研究现状及发展趋势.化学研究与应用,2018,30:1041-1047.
12 Huggett JF,Cowen S,Foy CA.Considerations for digital PCR as an accurate molecular diagnostic tool.Clin Chem,2015,61:79-88.
13 Madgett TE,Thompson HP,Welch CR,et al.Fetal sex and RHD genotyping with digital PCR demonstrates greater sensitivity than real-time PCR.Clin Chem,2015,61:1399-1407.
14 D′Aversa E,Breveglieri G,Pellegatti P,et al.Non-invasive fetal sex diagnosis in plasma of early weeks pregnants using droplet digital PCR.Mol Med,2018,24:14.
15 Allach EKL,Christelle RS,Dominique LT,et al.Could digital PCR be an alternative as a non-invasive prenatal test for trisomy 21:a proof of concept study.PLoS One,2016,11:e0155009.
16 邹洋,徐佩文,李杰,等.微滴式数字PCR在脊肌萎缩症基因检测和产前诊断中的应用.中华医学遗传学杂志,2016,33:594-597.
17 凌寒.卫生部发布《中国出生缺陷防治报告(2012)》.中国当代医药,2012,19:1.
18 Hefti E,Blanco JG.Pharmacotherapeutic Considerations for Individuals with Down Syndrome.Pharmacotherapy,2017,37:214-220.
19 Lo YMD,Lun FMF,Chan KCA,et al.Digital PCR for the molecular detection of fetal chromosomal aneuploidy.Proc Natl Acad Sci U S A,2007,104:13116-13121.
20 Zhang L,Zhu Q,Wang H,et al.Count-based size-correction analysis of maternal plasma DNA for improved noninvasive prenatal detection of fetal trisomies 13,18,and 21. Am J Transl Res,2017,9:3469-3473.
21 Ioan S,Slavyana G,Samira AA,et al.First-trimester screening-biomarkers and cell-free DNA.J Matern Fetal Neonatal Med,2019:1-7.
22 Wang Y,Li S,Wang W,et al.Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma.Mol Cytogenet,2020,13:10.
23 Orhant L,Vasson A,Tsatsaris V,et al.Droplet digital PCR,a new approach to analyze fetal DNA from maternal blood:application to the determination of fetal RHD genotype.Ann Biol Clin (Paris),2016,74:269-277.
24 Lee SY,Kim SJ,Han S,et al.A new approach of digital PCR system for non-invasive prenatal screening of trisomy 21. Clin Chim Acta,2018. 476:75-80.
25 Tan C,Chen X,Wang F,et al.A multiplex droplet digital PCR assay for non-invasive prenatal testing of fetal aneuploidies.Analyst,2019,144:2239-2247.
26 徐佩文,邹洋,李杰,等.微滴式数字PCR技术在两个单基因遗传病家系无创产前诊断中的应用.中华医学遗传学杂志,2018,35:224-227.
27 Emmanuel D,Alexandra L,Elizabeth B,et al.A non-invasive droplet digital PCR (ddPCR) assay to detect paternal CFTR mutations in the cell-free fetal DNA (cffDNA) of three pregnancies at risk of cystic fibrosis via compound heterozygosity.PLoS One,2015,10:e0142729.
28 Camunas-Soler J,Lee H,Hudgins L,et al.Noninvasive prenatal diagnosis of single-gene disorders by use of droplet digital PCR.Clin Chem,2018,64:336-345.
29 张艺佳,龚小倩,何怡,等.用微滴式数字PCR检测母体游离DNA中父源性β-地中海贫血CD41-42突变.中华医学遗传学杂志,2018,35:787-790.
30 徐文皓,黄亚娟.Rh阴性孕妇的产前免疫血液学检查及妊娠结局分析.实用妇产科杂志,2017,33:772-777.
31 李丽.76例Rh阴性孕妇妊娠结局分析.南京医科大学学报(自然科学版),2012,32:1439-1441.
32 耿娟,刘畅,周香城,等.微滴式数字PCR技术用于检测产前诊断标本母体细胞污染的初步研究.中华妇产科杂志,2017,52:93-97.
33 Young CM,Reum KA,Young KM,et al.Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR.Sci Rep,2016,6:37153.
34 Dong L,Meng Y,Sui Z,et al.Comparison of four digital PCR platforms for accurate quantification of DNA copy number of a certified plasmid DNA reference material.Sci Rep,2015,5:13174.
35 Dong L,Wang S,Fu B,et al.Evaluation of droplet digital PCR and next generation sequencing for characterizing DNA reference material for KRAS mutation detection.Sci Rep,2018,8:9650.