메뉴 건너뛰기




Volumn 54, Issue 10, 2014, Pages 2523-2533

Epigenome-wide DNA methylation assay reveals placental epigenetic markers for noninvasive fetal single-nucleotide polymorphism genotyping in maternal plasma

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; BISULFITE; METHYLATION SENSITIVE RESTRICTION ENZYME; MOLECULAR MARKER; PROTEIN; PROTEIN ACTB; PROTEIN CHST11; PROTEIN PSMB8; PROTEIN SKI; RESTRICTION ENDONUCLEASE; TESTIS DETERMINING FACTOR; UNCLASSIFIED DRUG; GENETIC MARKER;

EID: 84908086526     PISSN: 00411132     EISSN: 15372995     Source Type: Journal    
DOI: 10.1111/trf.12659     Document Type: Article
Times cited : (23)

References (37)
  • 1
    • 0342618532 scopus 로고    scopus 로고
    • Presence of fetal DNA in maternal plasma and serum
    • Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997; 350: 485-487.
    • (1997) Lancet , vol.350 , pp. 485-487
    • Lo, Y.M.1    Corbetta, N.2    Chamberlain, P.F.3
  • 2
    • 25144486149 scopus 로고    scopus 로고
    • Fetal DNA detection in maternal plasma throughout gestation
    • Galbiati S, Smid M, Gambini D, et al. Fetal DNA detection in maternal plasma throughout gestation. Hum Genet 2005; 117: 243-248.
    • (2005) Hum Genet , vol.117 , pp. 243-248
    • Galbiati, S.1    Smid, M.2    Gambini, D.3
  • 3
    • 0033364339 scopus 로고    scopus 로고
    • Rapid clearance of fetal DNA from maternal plasma
    • Lo YM, Zhang J, Leung TN, et al. Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet 1999; 64: 218-224.
    • (1999) Am J Hum Genet , vol.64 , pp. 218-224
    • Lo, Y.M.1    Zhang, J.2    Leung, T.N.3
  • 4
    • 79951942977 scopus 로고    scopus 로고
    • Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: The coming of age
    • Chiu RW, Lo YM,. Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age. Semin Fetal Neonatal Med 2011; 16: 88-93.
    • (2011) Semin Fetal Neonatal Med , vol.16 , pp. 88-93
    • Chiu, R.W.1    Lo, Y.M.2
  • 5
    • 84858082600 scopus 로고    scopus 로고
    • Early non-invasive detection of fetal y chromosome sequences in maternal plasma using multiplex PCR
    • Kolialexi A, Tounta G, Apostolou P, et al. Early non-invasive detection of fetal Y chromosome sequences in maternal plasma using multiplex PCR. Eur J Obstet Gynecol Reprod Biol 2012; 161: 34-37.
    • (2012) Eur J Obstet Gynecol Reprod Biol , vol.161 , pp. 34-37
    • Kolialexi, A.1    Tounta, G.2    Apostolou, P.3
  • 6
    • 33646075447 scopus 로고    scopus 로고
    • Noninvasive genotyping of 9 Y-chromosome specific STR loci using circulatory fetal DNA in maternal plasma by multiplex PCR
    • Deng Z, Wu G, Li Q, et al. Noninvasive genotyping of 9 Y-chromosome specific STR loci using circulatory fetal DNA in maternal plasma by multiplex PCR. Prenat Diagn 2006; 26: 362-368.
    • (2006) Prenat Diagn , vol.26 , pp. 362-368
    • Deng, Z.1    Wu, G.2    Li, Q.3
  • 7
    • 67049116478 scopus 로고    scopus 로고
    • Non-invasive prenatal paternity testing from maternal blood
    • Wagner J, Dzijan S, Marjanovic D, et al. Non-invasive prenatal paternity testing from maternal blood. Int J Legal Med 2009; 123: 75-79.
    • (2009) Int J Legal Med , vol.123 , pp. 75-79
    • Wagner, J.1    Dzijan, S.2    Marjanovic, D.3
  • 8
    • 81755186824 scopus 로고    scopus 로고
    • Effective detection of fetal sex using circulating fetal DNA in first-trimester maternal plasma
    • Lim JH, Park SY, Kim SY, et al. Effective detection of fetal sex using circulating fetal DNA in first-trimester maternal plasma. FASEB J 2012; 26: 250-258.
    • (2012) FASEB J , vol.26 , pp. 250-258
    • Lim, J.H.1    Park, S.Y.2    Kim, S.Y.3
  • 9
    • 26844478953 scopus 로고    scopus 로고
    • Detection of the placental epigenetic signature of the maspin gene in maternal plasma
    • Chim SS, Tong YK, Chiu RW, et al. Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Proc Natl Acad Sci U S A 2005; 102: 14753-14758.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 14753-14758
    • Chim, S.S.1    Tong, Y.K.2    Chiu, R.W.3
  • 10
    • 33845512998 scopus 로고    scopus 로고
    • Hypermethylated RASSF1A in maternal plasma: A universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis
    • Chan KC, Ding C, Gerovassili A, et al. Hypermethylated RASSF1A in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis. Clin Chem 2006; 52: 2211-2218.
    • (2006) Clin Chem , vol.52 , pp. 2211-2218
    • Chan, K.C.1    Ding, C.2    Gerovassili, A.3
  • 11
    • 0035407651 scopus 로고    scopus 로고
    • Bisulfite genomic sequencing: Systematic investigation of critical experimental parameters
    • Grunau C, Clark SJ, Rosenthal A,. Bisulfite genomic sequencing: systematic investigation of critical experimental parameters. Nucleic Acids Res 2001; 29: E65.
    • (2001) Nucleic Acids Res , vol.29 , pp. E65
    • Grunau, C.1    Clark, S.J.2    Rosenthal, A.3
  • 12
    • 79251487888 scopus 로고    scopus 로고
    • Hypomethylated DSCR4 is a placenta-derived epigenetic marker for trisomy 21
    • Du Y, Zhang J, Wang H, et al. Hypomethylated DSCR4 is a placenta-derived epigenetic marker for trisomy 21. Prenat Diagn 2011; 31: 207-214.
    • (2011) Prenat Diagn , vol.31 , pp. 207-214
    • Du, Y.1    Zhang, J.2    Wang, H.3
  • 13
    • 0026546877 scopus 로고
    • A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands
    • Frommer M, McDonald LE, Millar DS, et al. A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands. Proc Natl Acad Sci U S A 1992; 89: 1827-1831.
    • (1992) Proc Natl Acad Sci U S A , vol.89 , pp. 1827-1831
    • Frommer, M.1    McDonald, L.E.2    Millar, D.S.3
  • 14
    • 77954356752 scopus 로고    scopus 로고
    • Quantitative 1-step DNA methylation analysis with native genomic DNA as template
    • von Kanel T, Gerber D, Schaller A, et al. Quantitative 1-step DNA methylation analysis with native genomic DNA as template. Clin Chem 2010; 56: 1098-1106.
    • (2010) Clin Chem , vol.56 , pp. 1098-1106
    • Von Kanel, T.1    Gerber, D.2    Schaller, A.3
  • 15
    • 84887446019 scopus 로고    scopus 로고
    • Epigenome-wide profiling identifies significant differences in DNA methylation between matched-pairs of T- and B-lymphocytes from healthy individuals
    • Glossop JR, Nixon NB, Emes RD, et al. Epigenome-wide profiling identifies significant differences in DNA methylation between matched-pairs of T- and B-lymphocytes from healthy individuals. Epigenetics 2013; 8: 1188-1197.
    • (2013) Epigenetics , vol.8 , pp. 1188-1197
    • Glossop, J.R.1    Nixon, N.B.2    Emes, R.D.3
  • 16
    • 84856306090 scopus 로고    scopus 로고
    • Genome-wide DNA methylation profiling using Infinium® assay
    • Bibikova M, Le J, Barnes B, et al. Genome-wide DNA methylation profiling using Infinium® assay. Epigenomics 2009; 1: 177-200.
    • (2009) Epigenomics , vol.1 , pp. 177-200
    • Bibikova, M.1    Le, J.2    Barnes, B.3
  • 17
    • 78649773775 scopus 로고    scopus 로고
    • Systematic identification of placental epigenetic signatures for the noninvasive prenatal detection of Edwards syndrome
    • Tsui DW, Lam YM, Lee WS, et al. Systematic identification of placental epigenetic signatures for the noninvasive prenatal detection of Edwards syndrome. Plos One 2010; 5: e15069.
    • (2010) Plos One , vol.5 , pp. e15069
    • Tsui, D.W.1    Lam, Y.M.2    Lee, W.S.3
  • 18
    • 1642574222 scopus 로고    scopus 로고
    • Size distributions of maternal and fetal DNA in maternal plasma
    • Chan KC, Zhang J, Hui AB, et al. Size distributions of maternal and fetal DNA in maternal plasma. Clin Chem 2004; 50: 88-92.
    • (2004) Clin Chem , vol.50 , pp. 88-92
    • Chan, K.C.1    Zhang, J.2    Hui, A.B.3
  • 19
    • 79952768967 scopus 로고    scopus 로고
    • Gestation-dependent changes in human placental global DNA methylation levels
    • Chavan-Gautam P, Sundrani D, Pisal H, et al. Gestation-dependent changes in human placental global DNA methylation levels. Mol Reprod Dev 2011; 78: 150.
    • (2011) Mol Reprod Dev , vol.78 , pp. 150
    • Chavan-Gautam, P.1    Sundrani, D.2    Pisal, H.3
  • 20
    • 40449109999 scopus 로고    scopus 로고
    • Systematic search for placental DNA-methylation markers on chromosome 21: Toward a maternal plasma-based epigenetic test for fetal trisomy 21
    • Chim SS, Jin S, Lee TY, et al. Systematic search for placental DNA-methylation markers on chromosome 21: toward a maternal plasma-based epigenetic test for fetal trisomy 21. Clin Chem 2008; 54: 500-511.
    • (2008) Clin Chem , vol.54 , pp. 500-511
    • Chim, S.S.1    Jin, S.2    Lee, T.Y.3
  • 21
    • 65649095218 scopus 로고    scopus 로고
    • Sites of differential DNA methylation between placenta and peripheral blood: Molecular markers for noninvasive prenatal diagnosis of aneuploidies
    • Papageorgiou EA, Fiegler H, Rakyan V, et al. Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies. Am J Pathol 2009; 174: 1609-1618.
    • (2009) Am J Pathol , vol.174 , pp. 1609-1618
    • Papageorgiou, E.A.1    Fiegler, H.2    Rakyan, V.3
  • 22
    • 70350440343 scopus 로고    scopus 로고
    • A microarray-based approach for the identification of epigenetic biomarkers for the noninvasive diagnosis of fetal disease
    • Chu T, Burke B, Bunce K, et al. A microarray-based approach for the identification of epigenetic biomarkers for the noninvasive diagnosis of fetal disease. Prenat Diagn 2009; 29: 1020-1030.
    • (2009) Prenat Diagn , vol.29 , pp. 1020-1030
    • Chu, T.1    Burke, B.2    Bunce, K.3
  • 23
    • 73449106855 scopus 로고    scopus 로고
    • Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach
    • Tong YK, Jin S, Chiu RW, et al. Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach. Clin Chem 2010; 56: 90-98.
    • (2010) Clin Chem , vol.56 , pp. 90-98
    • Tong, Y.K.1    Jin, S.2    Chiu, R.W.3
  • 24
    • 84862252316 scopus 로고    scopus 로고
    • Screening significantly hypermethylated genes in fetal tissues compared with maternal blood using a methylated-CpG island recovery assay-based microarray
    • Yin A, Zhang X, Wu J, et al. Screening significantly hypermethylated genes in fetal tissues compared with maternal blood using a methylated-CpG island recovery assay-based microarray. BMC Med Genomics 2012; 5: 26.
    • (2012) BMC Med Genomics , vol.5 , pp. 26
    • Yin, A.1    Zhang, X.2    Wu, J.3
  • 25
    • 84887080693 scopus 로고    scopus 로고
    • Noninvasive prenatal methylomic analysis by genomewide bisulfite sequencing of maternal plasma DNA
    • Lun FM, Chiu RW, Sun K, et al. Noninvasive prenatal methylomic analysis by genomewide bisulfite sequencing of maternal plasma DNA. Clin Chem 2013; 59: 1583-1594.
    • (2013) Clin Chem , vol.59 , pp. 1583-1594
    • Lun, F.M.1    Chiu, R.W.2    Sun, K.3
  • 26
    • 34347230507 scopus 로고    scopus 로고
    • Free fetal DNA in maternal plasma in anembryonic pregnancies: Confirmation that the origin is the trophoblast
    • Alberry M, Maddocks D, Jones M, et al. Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast. Prenat Diagn 2007; 27: 415-418.
    • (2007) Prenat Diagn , vol.27 , pp. 415-418
    • Alberry, M.1    Maddocks, D.2    Jones, M.3
  • 27
    • 77955113326 scopus 로고    scopus 로고
    • Quantification and application of the placental epigenetic signature of the RASSF1A gene in maternal plasma
    • Zhao F, Wang J, Liu R, et al. Quantification and application of the placental epigenetic signature of the RASSF1A gene in maternal plasma. Prenat Diagn 2010; 30: 778-782.
    • (2010) Prenat Diagn , vol.30 , pp. 778-782
    • Zhao, F.1    Wang, J.2    Liu, R.3
  • 28
    • 37349014758 scopus 로고    scopus 로고
    • Quantitative aberrations of hypermethylated RASSF1A gene sequences in maternal plasma in pre-eclampsia
    • Tsui DW, Chan KC, Chim SS, et al. Quantitative aberrations of hypermethylated RASSF1A gene sequences in maternal plasma in pre-eclampsia. Prenat Diagn 2007; 27: 1212-1218.
    • (2007) Prenat Diagn , vol.27 , pp. 1212-1218
    • Tsui, D.W.1    Chan, K.C.2    Chim, S.S.3
  • 29
    • 84882390584 scopus 로고    scopus 로고
    • Detecting hypermethylated fetal RASSF1A sequences in maternal plasma: Implications for noninvasive paternity testing in pregnancy
    • Ou X, Gao J, Chen Y, et al. Detecting hypermethylated fetal RASSF1A sequences in maternal plasma: implications for noninvasive paternity testing in pregnancy. Transfusion 2013; 53: 1856-1858.
    • (2013) Transfusion , vol.53 , pp. 1856-1858
    • Ou, X.1    Gao, J.2    Chen, Y.3
  • 30
    • 84860432504 scopus 로고    scopus 로고
    • A noninvasive test to determine paternity in pregnancy
    • Guo X, Bayliss P, Damewood M, et al. A noninvasive test to determine paternity in pregnancy. N Engl J Med 2012; 366: 1743-1745.
    • (2012) N Engl J Med , vol.366 , pp. 1743-1745
    • Guo, X.1    Bayliss, P.2    Damewood, M.3
  • 31
    • 84878859477 scopus 로고    scopus 로고
    • Informatics-based, highly accurate, noninvasive prenatal paternity testing
    • Ryan A, Baner J, Demko Z, et al. Informatics-based, highly accurate, noninvasive prenatal paternity testing. Genet Med 2013; 15: 473-477.
    • (2013) Genet Med , vol.15 , pp. 473-477
    • Ryan, A.1    Baner, J.2    Demko, Z.3
  • 32
    • 0035055939 scopus 로고    scopus 로고
    • An assessment of the utility of single nucleotide polymorphisms (SNPs) for forensic purposes
    • Gill P,. An assessment of the utility of single nucleotide polymorphisms (SNPs) for forensic purposes. Int J Legal Med 2001; 114: 204-210.
    • (2001) Int J Legal Med , vol.114 , pp. 204-210
    • Gill, P.1
  • 33
    • 78649775528 scopus 로고    scopus 로고
    • PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
    • Agarwal AK, Xing C, DeMartino GN, et al. PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet 2010; 87: 866-872.
    • (2010) Am J Hum Genet , vol.87 , pp. 866-872
    • Agarwal, A.K.1    Xing, C.2    Demartino, G.N.3
  • 34
    • 80053397654 scopus 로고    scopus 로고
    • A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans
    • Kitamura A, Maekawa Y, Uehara H, et al. A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J Clin Invest 2011; 121: 4150-4160.
    • (2011) J Clin Invest , vol.121 , pp. 4150-4160
    • Kitamura, A.1    Maekawa, Y.2    Uehara, H.3
  • 35
    • 2642540027 scopus 로고    scopus 로고
    • Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNApolymorphisms
    • Li Y, Zimmermann B, Rusterholz C, et al. Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNApolymorphisms. Clin Chem 2004; 50: 1002-1011.
    • (2004) Clin Chem , vol.50 , pp. 1002-1011
    • Li, Y.1    Zimmermann, B.2    Rusterholz, C.3
  • 36
    • 33846423126 scopus 로고    scopus 로고
    • Improvement in fetal DNA extraction from maternal plasma. Evaluation of the NucliSens Magnetic Extraction system and the QIAamp DSP Virus Kit in comparison with the QIAamp DNA Blood Mini Kit
    • Clausen FB, Krog GR, Rieneck K, et al. Improvement in fetal DNA extraction from maternal plasma. Evaluation of the NucliSens Magnetic Extraction system and the QIAamp DSP Virus Kit in comparison with the QIAamp DNA Blood Mini Kit. Prenat Diagn 2007; 27: 6-10.
    • (2007) Prenat Diagn , vol.27 , pp. 6-10
    • Clausen, F.B.1    Krog, G.R.2    Rieneck, K.3
  • 37
    • 34548757303 scopus 로고    scopus 로고
    • Workshop report on the extraction of foetal DNA from maternal plasma
    • Legler TJ, Liu Z, Mavrou A, et al. Workshop report on the extraction of foetal DNA from maternal plasma. Prenat Diagn 2007; 27: 824-829.
    • (2007) Prenat Diagn , vol.27 , pp. 824-829
    • Legler, T.J.1    Liu, Z.2    Mavrou, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.