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学科主题: 临床医学
题名:
Effective Noninvasive Zygosity Determination by Maternal Plasma Target Region Sequencing
作者: Zheng, Jing1,3; Xu, Chenming2; Guo, Jing1,4; Wei, Yuan5; Ge, Huijuan1; Li, Xuchao1; Zhang, Chunlei1; Jiang, Haojun1,4,6; Pan, Ling2; Tang, Weiping7; Xie, Weiwei1; Zhang, Hongyun8; Zhao, Yangyu5; Jiang, Fuman8; Chen, Shengpei1,9; Wang, Wei1,7; Xu, Xun1; Chen, Fang1,10; Huang, Hefeng2; Jiang, Hui1,10,11
刊名: PLOS ONE
发表日期: 2013-06-10
DOI: 10.1371/journal.pone.0065050
卷: 8, 期:6
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
研究领域[WOS]: Science & Technology - Other Topics
关键词[WOS]: DUCHENNE MUSCULAR-DYSTROPHY ; PRENATAL-DIAGNOSIS ; TWIN PREGNANCIES ; DNA ; CHORIONICITY
英文摘要:

Background: Currently very few noninvasive molecular genetic approaches are available to determine zygosity for twin pregnancies in clinical laboratories. This study aimed to develop a novel method to determine zygosity by using maternal plasma target region sequencing.

Methods: We constructed a statistic model to calculate the possibility of each zygosity type using likelihood ratios (Li) and empirical dynamic thresholds targeting at 4,524 single nucleotide polymorphisms (SNPs) loci on 22 autosomes. Then two dizygotic (DZ) twin pregnancies, two monozygotic (MZ) twin pregnancies and two singletons were recruited to evaluate the performance of our novel method. Finally we estimated the sensitivity and specificity of the model in silico under different cell-free fetal DNA (cff-DNA) concentration and sequence depth.

Results/Conclusions: We obtained 8.90 Gbp sequencing data on average for six clinical samples. Two samples were classified as DZ with L values of 1.891 and 1.554, higher than the dynamic DZ cut-off values of 1.162 and 1.172, respectively. Another two samples were judged as MZ with 0.763 and 0.784 of L values, lower than the MZ cut-off values of 0.903 and 0.918. And the rest two singleton samples were regarded as MZ twins, with L values of 0.639 and 0.757, lower than the MZ cut-off values of 0.921 and 0.799. In silico, the estimated sensitivity of our noninvasive zygosity determination was 99.90% under 10% total cff-DNA concentration with 2 Gbp sequence data. As the cff-DNA concentration increased to 15%, the specificity was as high as 97% with 3.50 Gbp sequence data, much higher than 80% with 10% cff-DNA concentration.

Significance: This study presents the feasibility to noninvasively determine zygosity of twin pregnancy using target region sequencing, and illustrates the sensitivity and specificity under various detecting condition. Our method can act as an alternative approach for zygosity determination of twin pregnancies in clinical practice.

语种: 英语
所属项目编号: 861 ; 2011A060906007
项目资助者: Key Laboratory Project in Shenzhen (Shenzhen Municipal Commission of Development and Reform) ; Key Laboratory Project in Guang Dong Provicine
WOS记录号: WOS:000320440500022
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/56389
Appears in Collections:北京大学第三临床医学院_期刊论文

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作者单位: 1.Shenzhen Clin Lab, Shenzhen, Peoples R China
2.Univ Copenhagen, Dept Biol, Copenhagen, Denmark
3.BGI Shenzhen, Shenzhen, Peoples R China
4.Shenzhen Municipal Key Lab Genome Sci, Shenzhen, Peoples R China
5.BGI Shenzhen, East China Mkt Dept, Shenzhen, Peoples R China
6.Zhejiang Univ, Key Lab Reprod Genet, Hangzhou 310003, Zhejiang, Peoples R China
7.Southeast Univ, Dept Biomed Engn, Nanjing, Jiangsu, Peoples R China
8.Peking Univ, Hosp 3, Dept Obstet & Gynaecol, Beijing 100871, Peoples R China
9.Shenzhen Municipal Key Lab Birth Defects Screenin, Shenzhen, Peoples R China
10.Southeast Univ, Sch Biol Sci & Med Engn, State Key Lab Bioelect, Nanjing, Jiangsu, Peoples R China
11.Guangdong Prov Key Lab Human Dis Genome, Guangzhou, Guangdong, Peoples R China

Recommended Citation:
Zheng, Jing,Xu, Chenming,Guo, Jing,et al. Effective Noninvasive Zygosity Determination by Maternal Plasma Target Region Sequencing[J]. PLOS ONE,2013,8(6).
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