Noninvasive Prenatal Paternity Testing with a Combination of Well-Established SNP and STR Markers Using Massively Parallel Sequencing.
Noninvasive Prenatal Paternity Testing with a Combination of Well-Established SNP and STR Markers Using Massively Parallel Sequencing.
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DOI：
10.3390/genes12030454
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发表时间：
2021-03-22
期刊：
影响因子：
3.5
通讯作者：
Sun H
中科院分区：
文献类型：
--
作者：
Shen X;Li R;Li H;Gao Y;Chen H;Qu N;Peng D;Wu R;Sun H
来自母体血浆的无细胞胎儿DNA（cffDNA）使得开发无创产前亲子鉴定（NIPPT）成为可能。然而，大多数研究都集中在定制的单核苷酸多态性（SNP）分型系统，很少使用传统的短串联重复序列（STR）标记。本研究基于大规模平行测序（MPS）技术，采用一种被广泛接受的法医学多重检测系统，评价SNP和STR标记联合应用于无创性产前亲子鉴定的效果。使用ForenSeq DNA Signature Prep Kit，在17例妊娠7至24周的单卵未出生胎儿的真实的亲子关系病例中进行NIPPT。不同的分析策略，用于确定父系遗传等位基因（PIA）的处理SNPs和STR。计算了17个真实的三人组和272个无关三人组的联合父权指数（CPI）。当亲子鉴定的似然比（LR）阈值分别设为10，000、1000、100和10时，SNP和A-STR的组合分别能准确地确定82.35%（14/17）、88.24%（15/17）、94.12%（16/17）和94.12%（16/17）的真实的三联体。这表明，ForenSeq DNA Signature Prep Kit中包含的SNP和STR标记的同时调查为使用MPS技术的NIPPT提供了一种有前途的方法。
Cell-free fetal DNA (cffDNA) from maternal plasma has made it possible to develop noninvasive prenatal paternity testing (NIPPT). However, most studies have focused on customized single nucleotide polymorphism (SNP) typing systems and few have used conventional short tandem repeat (STR) markers. Based on massively parallel sequencing (MPS), this study used a widely-accepted forensic multiplex assay system to evaluate the effect of noninvasive prenatal paternity testing with a combination of well-established SNP and STR markers. Using a ForenSeq DNA Signature Prep Kit, NIPPT was performed in 17 real parentage cases with monovular unborn fetuses at 7 to 24 gestational weeks. Different analytical strategies for the identification of paternally inherited allele (PIA) were developed to deal with SNPs and STRs. Combined paternity index (CPI) for 17 real trios as well as 272 unrelated trios was calculated. With the combination of SNPs and A-STRs, 82.35% (14/17), 88.24% (15/17), 94.12% (16/17), and 94.12% (16/17) of real trios could be accurately determined when the likelihood ratio (LR) threshold for paternity inclusion was set to 10,000, 1000, 100, and 10, respectively. This reveals that simultaneous surveys of SNP and STR markers included in the ForenSeq DNA Signature Prep Kit offer a promising method for NIPPT using MPS technology.
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影响因子：
2.2
作者：
Evans, Mark I.;Andriole, Stephanie;Britt, David W.
通讯作者：
Britt, David W.
影响因子：
14.9
作者：
SCHLOTTERER, C;TAUTZ, D
通讯作者：
TAUTZ, D
影响因子：
3
作者：
BRAMBATI, B;SIMONI, G;PRIMIGNANI, P
通讯作者：
PRIMIGNANI, P
影响因子：
4.5
作者：
Ge, Jianye;Budowle, Bruce
通讯作者：
Budowle, Bruce
DOI：
10.1016/j.fsigss.2019.09.085
发表时间：
2019-12-01
期刊：
FORENSIC SCIENCE INTERNATIONAL GENETICS SUPPLEMENT SERIES
影响因子：
--
作者：
Hernandis, Elias;Dorum, Guro;Egeland, Thore
通讯作者：
Egeland, Thore