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基于母血的无创产前亲子鉴定

Non-invasive prenatal paternity testing from maternal blood.

作者信息

Wagner Jasenka, Dzijan Snjezana, Marjanović Damir, Lauc Gordan

机构信息

University of Osijek School of Medicine, DNA Laboratory, J. Huttlera 4, 31000, Osijek, Croatia.

出版信息

Int J Legal Med. 2009 Jan;123(1):75-9. doi: 10.1007/s00414-008-0292-9. Epub 2008 Oct 24.

DOI:10.1007/s00414-008-0292-9
PMID:18949481
Abstract

Prenatal paternity analysis can be performed only after invasive sampling of chorionic villi or amnionic fluid. Aiming to enable noninvasive paternity testing, we attempted to amplify fetal alleles from maternal plasma. Cell-free DNA was isolated from plasma of 20 pregnant women and amplified with ampFLSTR Identifiler and ampFLSTR Yfiler kits. Unfortunately, autosomal fetal alleles were heavily suppressed by maternal DNA, and the only locus that was reliably amplified with AmpFLSTR Identifiler kit was amelogenin, which revealed only fetal gender. Much better success was obtained with AmpFLSTR Yfiler kit, which, in the case of male fetuses, successfully amplified between six and 16 fetal loci. All amplified fetal alleles matched the alleles of their putative fathers, confirming the tested paternity. To the best of our knowledge, this is a first report of noninvasive prenatal paternity testing.

摘要

产前亲子鉴定只能在对绒毛膜绒毛或羊水进行侵入性采样后进行。为了实现无创亲子鉴定,我们尝试从孕妇血浆中扩增胎儿等位基因。从20名孕妇的血浆中分离出游离DNA,并用ampFLSTR Identifiler和ampFLSTR Yfiler试剂盒进行扩增。不幸的是,常染色体胎儿等位基因受到母体DNA的严重抑制,使用AmpFLSTR Identifiler试剂盒唯一能可靠扩增的位点是牙釉蛋白,它仅显示胎儿性别。使用AmpFLSTR Yfiler试剂盒获得了更好的结果,在男性胎儿的情况下,成功扩增了6至16个胎儿位点。所有扩增的胎儿等位基因都与其推定父亲的等位基因匹配,证实了检测的亲子关系。据我们所知,这是无创产前亲子鉴定的首次报告。

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引用本文的文献

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Int J Mol Sci. 2025 May 9;26(10):4518. doi: 10.3390/ijms26104518.
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Early noninvasive prenatal paternity testing by targeted fetal DNA analysis.通过靶向胎儿 DNA 分析进行早期无创产前亲子鉴定。
Sci Rep. 2023 Jul 26;13(1):12139. doi: 10.1038/s41598-023-39367-0.
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Addressing ethical issues related to prenatal diagnostic procedures.解决与产前诊断程序相关的伦理问题。

本文引用的文献

1
Analysis of multiple loci can increase reliability of detection of fetal Y-chromosome DNA in maternal plasma.多个位点的分析可以提高母血中胎儿Y染色体DNA检测的可靠性。
Prenat Diagn. 2008 May;28(5):412-6. doi: 10.1002/pd.1986.
2
Noninvasive detection of fetal sex: the laboratory diagnostician's view.胎儿性别的非侵入性检测:实验室诊断专家的观点。
Prenat Diagn. 2006 Jul;26(7):635-6. doi: 10.1002/pd.1478.
3
Y-chromosomal STR haplotypes in a Northeast Italian population sample using 17plex loci PCR assay.利用17重位点聚合酶链式反应分析法对意大利东北部人群样本进行Y染色体短串联重复单倍型分析。
Matern Health Neonatol Perinatol. 2023 Feb 3;9(1):1. doi: 10.1186/s40748-023-00146-4.
4
Noninvasive Prenatal Paternity Testing with a Combination of Well-Established SNP and STR Markers Using Massively Parallel Sequencing.利用高通量测序的 SNP 和 STR 标记联合进行无创性产前亲子鉴定。
Genes (Basel). 2021 Mar 22;12(3):454. doi: 10.3390/genes12030454.
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Noninvasive prenatal paternity testing by means of SNP-based targeted sequencing.基于 SNP 的靶向测序的无创性产前亲子鉴定。
Prenat Diagn. 2020 Mar;40(4):497-506. doi: 10.1002/pd.5595. Epub 2020 Feb 20.
6
Non-invasive prenatal paternity testing using a standard forensic genetic massively parallel sequencing assay for amplification of human identification SNPs.利用标准法医遗传学高通量测序检测扩增人类识别 SNP 进行无创性产前亲子鉴定。
Int J Legal Med. 2019 Sep;133(5):1361-1368. doi: 10.1007/s00414-019-02106-0. Epub 2019 Jun 26.
7
An SNP panel for the analysis of paternally inherited alleles in maternal plasma using ion Torrent PGM.一种用于使用离子激流PGM分析母血中父系遗传等位基因的单核苷酸多态性(SNP)检测板。
Int J Legal Med. 2018 Mar;132(2):343-352. doi: 10.1007/s00414-017-1594-6. Epub 2017 Apr 20.
8
Noninvasive Prenatal Paternity Testing (NIPAT) through Maternal Plasma DNA Sequencing: A Pilot Study.通过母体血浆DNA测序进行无创产前亲子鉴定(NIPAT):一项初步研究。
PLoS One. 2016 Sep 15;11(9):e0159385. doi: 10.1371/journal.pone.0159385. eCollection 2016.
9
Informatics-based, highly accurate, noninvasive prenatal paternity testing.基于信息学的、高度准确的、非侵入性的产前亲子鉴定。
Genet Med. 2013 Jun;15(6):473-7. doi: 10.1038/gim.2012.155. Epub 2012 Dec 20.
Int J Legal Med. 2006 Jan;120(1):56-9. doi: 10.1007/s00414-005-0054-x. Epub 2005 Nov 19.
4
Diagnostic developments involving cell-free (circulating) nucleic acids.涉及游离(循环)核酸的诊断进展。
Clin Chim Acta. 2006 Jan;363(1-2):187-96. doi: 10.1016/j.cccn.2005.05.048. Epub 2005 Aug 26.
5
Allele frequencies for 15 STR loci in a population from the Republic of Macedonia.马其顿共和国某一人群中15个短串联重复序列(STR)位点的等位基因频率。
Int J Legal Med. 2006 Jan;120(1):53-5. doi: 10.1007/s00414-005-0025-2. Epub 2005 Aug 9.
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Recent advances in fetal nucleic acids in maternal plasma.母血中胎儿核酸的最新进展。
J Histochem Cytochem. 2005 Mar;53(3):293-6. doi: 10.1369/jhc.4R6362.2005.
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Accurate and robust quantification of circulating fetal and total DNA in maternal plasma from 5 to 41 weeks of gestation.
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How high should paternity index be for reliable identification of war victims by DNA typing?通过DNA分型可靠鉴定战争受害者时,亲权指数应多高?
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The identification of war victims by reverse paternity is associated with significant risks of false inclusion.通过反向亲子鉴定来鉴定战争受害者存在着显著的误纳入风险。
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