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Volumn 32, Issue 6, 2012, Pages 578-587

Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 84861480612     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.3864     Document Type: Article
Times cited : (36)

References (32)
  • 2
    • 70449723370 scopus 로고    scopus 로고
    • Incidence of haemoglobinopathies in various populations - the impact of immigration
    • Henderson S, Timbs A, McCarthy J, Gallienne A, Van MM, Masters G, et al. Incidence of haemoglobinopathies in various populations - the impact of immigration. Clin Biochem 2009;42(18):1745-56.
    • (2009) Clin Biochem , vol.42 , Issue.18 , pp. 1745-1756
    • Henderson, S.1    Timbs, A.2    McCarthy, J.3    Gallienne, A.4    Van, M.M.5    Masters, G.6
  • 3
    • 44949128064 scopus 로고    scopus 로고
    • Global epidemiology of haemoglobin disorders and derived service indicators
    • Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ 2008;86(6):480-7.
    • (2008) Bull World Health Organ , vol.86 , Issue.6 , pp. 480-487
    • Modell, B.1    Darlison, M.2
  • 5
    • 76449093190 scopus 로고    scopus 로고
    • Update on procedure-related risks for prenatal diagnosis techniques
    • Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 2010;27(1):1-7.
    • (2010) Fetal Diagn Ther , vol.27 , Issue.1 , pp. 1-7
    • Tabor, A.1    Alfirevic, Z.2
  • 6
    • 0028050057 scopus 로고
    • Comparison of chorionic villus sampling and amniocentesis for fetal karyotyping at 10-13weeks' gestation
    • Nicolaides K, Brizot ML, Patel F, Snijders R. Comparison of chorionic villus sampling and amniocentesis for fetal karyotyping at 10-13weeks' gestation. Lancet 1994;344(8920):435-9.
    • (1994) Lancet , vol.344 , Issue.8920 , pp. 435-439
    • Nicolaides, K.1    Brizot, M.L.2    Patel, F.3    Snijders, R.4
  • 9
    • 39149109269 scopus 로고    scopus 로고
    • Non-invasive prenatal diagnosis and determination of fetal Rh status
    • van der Schoot CE, Hahn S, Chitty LS. Non-invasive prenatal diagnosis and determination of fetal Rh status. Semin Fetal Neonatal Med 2008;13(2):63-8.
    • (2008) Semin Fetal Neonatal Med , vol.13 , Issue.2 , pp. 63-68
    • van der Schoot, C.E.1    Hahn, S.2    Chitty, L.S.3
  • 10
    • 78751683468 scopus 로고    scopus 로고
    • Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study
    • Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011;342:c7401.
    • (2011) BMJ , vol.342
    • Chiu, R.W.1    Akolekar, R.2    Zheng, Y.W.3    Leung, T.Y.4    Sun, H.5    Chan, K.C.6
  • 12
    • 80051564369 scopus 로고    scopus 로고
    • Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis
    • Devaney SA, Palomaki GE, Scott JA, Bianchi DW. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis. JAMA 2011;306(6):627-36.
    • (2011) JAMA , vol.306 , Issue.6 , pp. 627-636
    • Devaney, S.A.1    Palomaki, G.E.2    Scott, J.A.3    Bianchi, D.W.4
  • 13
    • 54049132561 scopus 로고    scopus 로고
    • Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma
    • Lun FM, Chiu RW, Allen Chan KC, Yeung LT, Kin LT, Dennis Lo YM. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem 2008;54(10):1664-72.
    • (2008) Clin Chem , vol.54 , Issue.10 , pp. 1664-1672
    • Lun, F.M.1    Chiu, R.W.2    Allen Chan, K.C.3    Yeung, L.T.4    Kin, L.T.5    Dennis Lo, Y.M.6
  • 14
    • 35349021544 scopus 로고    scopus 로고
    • Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasma
    • Boon EM, Schlecht HB, Martin P, Daniels G, Vossen RH, den Dunnen JT, et al. Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasma. Prenat Diagn 2007;27(10):932-7.
    • (2007) Prenat Diagn , vol.27 , Issue.10 , pp. 932-937
    • Boon, E.M.1    Schlecht, H.B.2    Martin, P.3    Daniels, G.4    Vossen, R.H.5    den Dunnen, J.T.6
  • 15
    • 0033737004 scopus 로고    scopus 로고
    • Pyrophosphorolysis-activated polymerization (PAP): application to allele-specific amplification
    • 1078, 1080.
    • Liu Q, Sommer SS. Pyrophosphorolysis-activated polymerization (PAP): application to allele-specific amplification. Biotechniques 2000;29(5):1072-6, 1078, 1080.
    • (2000) Biotechniques , vol.29 , Issue.5 , pp. 1072-1076
    • Liu, Q.1    Sommer, S.S.2
  • 16
    • 2342472111 scopus 로고    scopus 로고
    • PAP: detection of ultra rare mutations depends on P* oligonucleotides: "sleeping beauties" awakened by the kiss of pyrophosphorolysis
    • Liu Q, Sommer SS. PAP: detection of ultra rare mutations depends on P* oligonucleotides: "sleeping beauties" awakened by the kiss of pyrophosphorolysis. Hum Mutat 2004;23(5):426-36.
    • (2004) Hum Mutat , vol.23 , Issue.5 , pp. 426-436
    • Liu, Q.1    Sommer, S.S.2
  • 17
    • 0037079660 scopus 로고    scopus 로고
    • Pyrophosphorolysis-activatable oligonucleotides may facilitate detection of rare alleles, mutation scanning and analysis of chromatin structures
    • Liu Q, Sommer SS. Pyrophosphorolysis-activatable oligonucleotides may facilitate detection of rare alleles, mutation scanning and analysis of chromatin structures. Nucleic Acids Res 2002;30(2):598-604.
    • (2002) Nucleic Acids Res , vol.30 , Issue.2 , pp. 598-604
    • Liu, Q.1    Sommer, S.S.2
  • 18
    • 0000274978 scopus 로고    scopus 로고
    • The molecular spectrum of beta-thalassemia and abnormal hemoglobins in the allochthonous and autochthonous Dutch population
    • Giordano PC, Harteveld CL, Heister AJ, Batelaan D, van DP, Plug R, et al. The molecular spectrum of beta-thalassemia and abnormal hemoglobins in the allochthonous and autochthonous Dutch population. Community Genet 1998;1(4):243-51.
    • (1998) Community Genet , vol.1 , Issue.4 , pp. 243-251
    • Giordano, P.C.1    Harteveld, C.L.2    Heister, A.J.3    Batelaan, D.4    van, D.P.5    Plug, R.6
  • 19
    • 33846045774 scopus 로고    scopus 로고
    • HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update
    • Giardine B, van BS, Kaimakis P, Riemer C, Miller W, Samara M, et al. HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat 2007;28(2):206.
    • (2007) Hum Mutat , vol.28 , Issue.2 , pp. 206
    • Giardine, B.1    van, B.S.2    Kaimakis, P.3    Riemer, C.4    Miller, W.5    Samara, M.6
  • 21
    • 0019949838 scopus 로고
    • Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster
    • Orkin SH, Kazazian HH, Jr., Antonarakis SE, Goff SC, Boehm CD, Sexton JP, et al. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature 1982;296(5858):627-31.
    • (1982) Nature , vol.296 , Issue.5858 , pp. 627-631
    • Orkin, S.H.1    Kazazian Jr., H.H.2    Antonarakis, S.E.3    Goff, S.C.4    Boehm, C.D.5    Sexton, J.P.6
  • 22
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 2000;132:365-86.
    • (2000) Methods Mol Biol , vol.132 , pp. 365-386
    • Rozen, S.1    Skaletsky, H.2
  • 24
    • 82255175588 scopus 로고    scopus 로고
    • Feasibility of nonselective testing for hemoglobinopathies in early pregnancy in The Netherlands
    • Kaufmann JO, Demirel-Gungor G, Selles A, Hudig C, Steen G, Ponjee G, et al. Feasibility of nonselective testing for hemoglobinopathies in early pregnancy in The Netherlands. Prenat Diagn 2011;31(13):1259-63.
    • (2011) Prenat Diagn , vol.31 , Issue.13 , pp. 1259-1263
    • Kaufmann, J.O.1    Demirel-Gungor, G.2    Selles, A.3    Hudig, C.4    Steen, G.5    Ponjee, G.6
  • 26
    • 4644362514 scopus 로고    scopus 로고
    • Application of coalescent methods to reveal fine-scale rate variation and recombination hotspots
    • Fearnhead P, Harding RM, Schneider JA, Myers S, Donnelly P. Application of coalescent methods to reveal fine-scale rate variation and recombination hotspots. Genetics 2004;167(4):2067-81.
    • (2004) Genetics , vol.167 , Issue.4 , pp. 2067-2081
    • Fearnhead, P.1    Harding, R.M.2    Schneider, J.A.3    Myers, S.4    Donnelly, P.5
  • 27
    • 0022668614 scopus 로고
    • Meiotic recombination between two polymorphic restriction sites within the beta globin gene cluster
    • Old JM, Heath C, Fitches A, Thein SL, Jeffreys AJ, Petrou M, et al. Meiotic recombination between two polymorphic restriction sites within the beta globin gene cluster. J Med Genet 1986;23(1):14-8.
    • (1986) J Med Genet , vol.23 , Issue.1 , pp. 14-18
    • Old, J.M.1    Heath, C.2    Fitches, A.3    Thein, S.L.4    Jeffreys, A.J.5    Petrou, M.6
  • 28
    • 0037190608 scopus 로고    scopus 로고
    • Prenatal exclusion of beta thalassaemia major by examination of maternal plasma
    • Chiu RW, Lau TK, Leung TN, Chow KC, Chui DH, Lo YM. Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet 2002;360(9338):998-1000.
    • (2002) Lancet , vol.360 , Issue.9338 , pp. 998-1000
    • Chiu, R.W.1    Lau, T.K.2    Leung, T.N.3    Chow, K.C.4    Chui, D.H.5    Lo, Y.M.6
  • 30
    • 77950518486 scopus 로고    scopus 로고
    • Detection of paternal alleles in maternal plasma for non-invasive prenatal diagnosis of beta-thalassemia: a feasibility study in southern Chinese
    • Chan K, Yam I, Leung KY, Tang M, Chan TK, Chan V. Detection of paternal alleles in maternal plasma for non-invasive prenatal diagnosis of beta-thalassemia: a feasibility study in southern Chinese. Eur J Obstet Gynecol Reprod Biol 2010;150(1):28-33.
    • (2010) Eur J Obstet Gynecol Reprod Biol , vol.150 , Issue.1 , pp. 28-33
    • Chan, K.1    Yam, I.2    Leung, K.Y.3    Tang, M.4    Chan, T.K.5    Chan, V.6
  • 31
    • 84934442064 scopus 로고    scopus 로고
    • MALDI-TOF mass spectrometry for analyzing cell-free fetal DNA in maternal plasma
    • Ding C. MALDI-TOF mass spectrometry for analyzing cell-free fetal DNA in maternal plasma. Methods Mol Biol 2008;444:253-67.
    • (2008) Methods Mol Biol , vol.444 , pp. 253-267
    • Ding, C.1
  • 32
    • 0037560709 scopus 로고    scopus 로고
    • Direct molecular haplotyping of long-range genomic DNA with M1-PCR
    • Ding C, Cantor CR. Direct molecular haplotyping of long-range genomic DNA with M1-PCR. Proc Natl Acad Sci USA 2003;100(13):7449-53.
    • (2003) Proc Natl Acad Sci USA , vol.100 , Issue.13 , pp. 7449-7453
    • Ding, C.1    Cantor, C.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.