메뉴 건너뛰기




Volumn 1160, Issue , 2014, Pages 215-228

Developing noninvasive diagnosis for single-gene disorders: The role of digital PCR

Author keywords

Cell free fetal DNA; Digital PCR (dPCR); Hydrolysis probes; Microfluidics; Noninvasive prenatal diagnosis; Quantitative real time PCR

Indexed keywords

CELL FREE DNA; DNA; UNCLASSIFIED DRUG; PRIMER DNA;

EID: 84920514296     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4939-0733-5_17     Document Type: Article
Times cited : (17)

References (35)
  • 2
    • 84865712699 scopus 로고    scopus 로고
    • Nanofluidic digital PCR for KRAS mutation detection and quantification in gastrointestinal cancer
    • Azuara D, Ginesta MM, Gausachs M et al (2012) Nanofluidic digital PCR for KRAS mutation detection and quantification in gastrointestinal cancer. Clin Chem 58: 1332-1341.
    • (2012) Clin Chem , vol.58 , pp. 1332-1341
    • Azuara, D.1    Ginesta, M.M.2    Gausachs, M.3
  • 3
    • 77950551052 scopus 로고    scopus 로고
    • Quantifying EGFR alterations in the lung cancer genome with nanofluidic digital PCR arrays
    • Wang J, Ramakrishnan R, Tang Z et al (2010) Quantifying EGFR alterations in the lung cancer genome with nanofluidic digital PCR arrays. Clin Chem 56: 623-632.
    • (2010) Clin Chem , vol.56 , pp. 623-632
    • Wang, J.1    Ramakrishnan, R.2    Tang, Z.3
  • 4
    • 63449103435 scopus 로고    scopus 로고
    • Single-molecule detection of epidermal growth factor receptor mutations in plasma by microfluidics digital PCR in non-small cell lung cancer patients
    • Yung TK, Chan HC, Mok TS et al (2009) Single-molecule detection of epidermal growth factor receptor mutations in plasma by microfluidics digital PCR in non-small cell lung cancer patients. Clin Cancer Res 15: 2076-2084.
    • (2009) Clin Cancer Res , vol.15 , pp. 2076-2084
    • Yung, T.K.1    Chan, H.C.2    Mok, T.S.3
  • 5
    • 58149401202 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma
    • Lun FM, Tsui NB, Chan KC et al (2008) Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Natl Acad Sci U S A 105: 19920-19925.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 19920-19925
    • Lun, F.M.1    Tsui, N.B.2    Chan, K.C.3
  • 6
    • 84861658383 scopus 로고    scopus 로고
    • Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia
    • Barrett AN, McDonnell TC, Chan KC et al (2012) Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia. Clin Chem 58: 1026-1032.
    • (2012) Clin Chem , vol.58 , pp. 1026-1032
    • Barrett, A.N.1    McDonnell, T.C.2    Chan, K.C.3
  • 7
    • 79953703694 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA
    • Tsui NB, Kadir RA, Chan KC et al (2011) Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood 117: 3684-3691.
    • (2011) Blood , vol.117 , pp. 3684-3691
    • Tsui, N.B.1    Kadir, R.A.2    Chan, K.C.3
  • 8
    • 84869020196 scopus 로고    scopus 로고
    • Lowlevel detection and quantitation of cellular HIV-1 DNA and 2-LTR circles using droplet digital PCR
    • Henrich TJ, Gallien S, Li JZ et al (2012) Lowlevel detection and quantitation of cellular HIV-1 DNA and 2-LTR circles using droplet digital PCR. J Virol Methods 186: 68-72.
    • (2012) J Virol Methods , vol.186 , pp. 68-72
    • Henrich, T.J.1    Gallien, S.2    Li, J.Z.3
  • 9
    • 84875712178 scopus 로고    scopus 로고
    • Highly precise measurement of HIV DNA by droplet digital PCR
    • Strain MC, Lada SM, Luong T et al (2013) Highly precise measurement of HIV DNA by droplet digital PCR. PLoS One 8: e55943. doi: 10. 1371/journal. pone. 0055943.
    • (2013) PLoS One , vol.8
    • Strain, M.C.1    Lada, S.M.2    Luong, T.3
  • 10
    • 77949798725 scopus 로고    scopus 로고
    • Multiplexed real-time polymerase chain reaction on a digital microfluidic platform
    • Hua Z, Rouse JL, Eckhardt AE et al (2010) Multiplexed real-time polymerase chain reaction on a digital microfluidic platform. Anal Chem 82: 2310-2316.
    • (2010) Anal Chem , vol.82 , pp. 2310-2316
    • Hua, Z.1    Rouse, J.L.2    Eckhardt, A.E.3
  • 11
    • 81255175501 scopus 로고    scopus 로고
    • High-throughput droplet digital PCR system for absolute quantitation of DNA copy number
    • Hindson BJ, Ness KD, Masquelier DA et al (2011) High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem 83: 8604-8610.
    • (2011) Anal Chem , vol.83 , pp. 8604-8610
    • Hindson, B.J.1    Ness, K.D.2    Masquelier, D.A.3
  • 12
    • 77649235168 scopus 로고    scopus 로고
    • Taking qPCR to a higher level: Analysis of CNV reveals the power of high throughput qPCR to enhance quantitative resolution
    • Weaver S, Dube S, Mir A et al (2010) Taking qPCR to a higher level: analysis of CNV reveals the power of high throughput qPCR to enhance quantitative resolution. Methods 50: 271-276.
    • (2010) Methods , vol.50 , pp. 271-276
    • Weaver, S.1    Dube, S.2    Mir, A.3
  • 13
    • 84862205836 scopus 로고    scopus 로고
    • Comparison of microfluidic digital PCR and conventional quantitative PCR for measuring copy number variation
    • Whale AS, Huggett JF, Cowen S et al (2012) Comparison of microfluidic digital PCR and conventional quantitative PCR for measuring copy number variation. Nucleic Acids Res 40: e82. doi: 10. 1093/nar/gks203.
    • (2012) Nucleic Acids Res , vol.40
    • Whale, A.S.1    Huggett, J.F.2    Cowen, S.3
  • 14
    • 84878468245 scopus 로고    scopus 로고
    • Droplet digital PCR measurement of HER2 copy number alteration in formalin-fixed paraffin-embedded breast carcinoma tissue
    • Belgrader P, Tanner SC, Regan JF et al (2013) Droplet digital PCR measurement of HER2 copy number alteration in formalin-fixed paraffin-embedded breast carcinoma tissue. Clin Chem 59: 991-994.
    • (2013) Clin Chem , vol.59 , pp. 991-994
    • Belgrader, P.1    Tanner, S.C.2    Regan, J.F.3
  • 15
    • 84879493428 scopus 로고    scopus 로고
    • Noninvasive detection of HER2 amplification with plasma DNA digital PCR
    • Gevensleben H, Garcia-Murillas I, Graeser MK et al (2013) Noninvasive detection of HER2 amplification with plasma DNA digital PCR. Clin Cancer Res 19: 3276-3284.
    • (2013) Clin Cancer Res , vol.19 , pp. 3276-3284
    • Gevensleben, H.1    Garcia-Murillas, I.2    Graeser, M.K.3
  • 16
    • 84879009506 scopus 로고    scopus 로고
    • Droplet digital PCR quantitation of HER2 expression in FFPE breast cancer samples
    • Heredia NJ, Belgrader P, Wang S et al (2013) Droplet digital PCR quantitation of HER2 expression in FFPE breast cancer samples. Methods 59: S20-S23. doi: 10. 1016/j. ymeth. 2012. 09. 012.
    • (2013) Methods , vol.59 , pp. 20-23
    • Heredia, N.J.1    Belgrader, P.2    Wang, S.3
  • 17
    • 51449098381 scopus 로고    scopus 로고
    • Mathematical analysis of copy number variation in a DNA sample using digital PCR on a nanofluidic device
    • Dube S, Qin J, Ramakrishnan R (2008) Mathematical analysis of copy number variation in a DNA sample using digital PCR on a nanofluidic device. PLoS One 3: e2876. doi: 10. 1371/journal. pone. 0002876.
    • (2008) PLoS One , vol.3
    • Dube, S.1    Qin, J.2    Ramakrishnan, R.3
  • 18
    • 84934436155 scopus 로고    scopus 로고
    • Realtime quantitative PCR for the detection of fetal aneuploidies
    • Zimmermann BG, Dudarewicz L (2008) Realtime quantitative PCR for the detection of fetal aneuploidies. Methods Mol Biol 444: 95-109.
    • (2008) Methods Mol Biol , vol.444 , pp. 95-109
    • Zimmermann, B.G.1    Dudarewicz, L.2
  • 19
    • 76449093190 scopus 로고    scopus 로고
    • Update on procedure-related risks for prenatal diagnosis techniques
    • Tabor A, Alfirevic Z (2010) Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 27: 1-7.
    • (2010) Fetal Diagn Ther , vol.27 , pp. 1-7
    • Tabor, A.1    Alfirevic, Z.2
  • 21
    • 0342618532 scopus 로고    scopus 로고
    • Presence of fetal DNA in maternal plasma and serum
    • Lo YM, Corbetta N, Chamberlain PF et al (1997) Presence of fetal DNA in maternal plasma and serum. Lancet 350: 485-487.
    • (1997) Lancet , vol.350 , pp. 485-487
    • Lo, Y.M.1    Corbetta, N.2    Chamberlain, P.F.3
  • 22
    • 58049189139 scopus 로고    scopus 로고
    • Quantification of cell free fetal DNA in maternal plasma in normal pregnancies and in pregnancies with placental dysfunction
    • Alberry MS, Maddocks DG, Hadi MA et al (2009) Quantification of cell free fetal DNA in maternal plasma in normal pregnancies and in pregnancies with placental dysfunction. Am J Obstet Gynecol 200(98): e1-e6. doi: 10. 1016/j. ajog. 2008. 07. 063.
    • (2009) Am J Obstet Gynecol , vol.200 , Issue.98 , pp. 1-6
    • Alberry, M.S.1    Maddocks, D.G.2    Hadi, M.A.3
  • 23
    • 12944331281 scopus 로고    scopus 로고
    • Accurate and robust quantification of circulating fetal and total DNA in maternal plasma from 5 to 41 weeks of gestation
    • Birch L, English CA, O'Donogue K et al (2005) Accurate and robust quantification of circulating fetal and total DNA in maternal plasma from 5 to 41 weeks of gestation. Clin Chem 51: 312-320.
    • (2005) Clin Chem , vol.51 , pp. 312-320
    • Birch, L.1    English, C.A.2    O'Donogue, K.3
  • 24
    • 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 et al (2008) Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem 54: 1664-1672.
    • (2008) Clin Chem , vol.54 , pp. 1664-1672
    • Lun, F.M.1    Chiu, R.W.2    Allen Chan, K.C.3
  • 25
    • 78650207098 scopus 로고    scopus 로고
    • Maternal plasma DNA sequencing reveals the genomewide genetic and mutational profile of the fetus
    • Lo YM, Chan KC, Sun H et al (2010) Maternal plasma DNA sequencing reveals the genomewide genetic and mutational profile of the fetus. Sci Transl Med 2: 61ra91. doi: 10. 1126/scitranslmed. 3001720.
    • (2010) Sci Transl Med , vol.2
    • Lo, Y.M.1    Chan, K.C.2    Sun, H.3
  • 26
    • 0033364339 scopus 로고    scopus 로고
    • Rapid clearance of fetal DNA from maternal plasma
    • Lo YM, Zhang J, Leung TN et al (1999) Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet 64: 218-224.
    • (1999) Am J Hum Genet , vol.64 , pp. 218-224
    • Lo, Y.M.1    Zhang, J.2    Leung, T.N.3
  • 27
    • 79958087361 scopus 로고    scopus 로고
    • Noninvasive prenatal determination of fetal sex: Translating research into clinical practice
    • Hill M, Finning K, Martin P et al (2011) Noninvasive prenatal determination of fetal sex: translating research into clinical practice. Clin Genet 80: 68-75.
    • (2011) Clin Genet , vol.80 , pp. 68-75
    • Hill, M.1    Finning, K.2    Martin, P.3
  • 28
    • 59649114083 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal blood group phenotypes: Current practice and future prospects
    • Daniels G, Finning K, Martin P et al (2009) Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects. Prenat Diagn 29: 101-107.
    • (2009) Prenat Diagn , vol.29 , pp. 101-107
    • Daniels, G.1    Finning, K.2    Martin, P.3
  • 29
    • 58149490683 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
    • Chiu RW, Chan KC, Gao Y et al (2008) Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A 105: 20458-20463.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 20458-20463
    • Chiu, R.W.1    Chan, K.C.2    Gao, Y.3
  • 30
    • 55849124028 scopus 로고    scopus 로고
    • Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
    • Fan HC, Blumenfeld YJ, Chitkara U et al (2008) Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A 105: 16266-16271.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 16266-16271
    • Fan, H.C.1    Blumenfeld, Y.J.2    Chitkara, U.3
  • 31
    • 84878164950 scopus 로고    scopus 로고
    • Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies
    • Boon EM, Faas BH (2013) Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies. Prenat Diagn 33: 563-568.
    • (2013) Prenat Diagn , vol.33 , pp. 563-568
    • Boon, E.M.1    Faas, B.H.2
  • 32
    • 84859350834 scopus 로고    scopus 로고
    • Noninvasive prenatal testing for aneuploidy-ready for prime time?
    • Chitty LS, Hill M, White H et al (2012) Noninvasive prenatal testing for aneuploidy-ready for prime time? Am J Obstet Gynecol 206: 269-275.
    • (2012) Am J Obstet Gynecol , vol.206 , pp. 269-275
    • Chitty, L.S.1    Hill, M.2    White, H.3
  • 33
    • 84878148957 scopus 로고    scopus 로고
    • The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: Challenges and progress made
    • Lench N, Barrett A, Fielding S et al (2013) The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made. Prenat Diagn 33: 555-562.
    • (2013) Prenat Diagn , vol.33 , pp. 555-562
    • Lench, N.1    Barrett, A.2    Fielding, S.3
  • 34
    • 0004222748 scopus 로고    scopus 로고
    • Code
    • Rozen S, Skaletsky HJ (1998) Primer3. Code available at http://www-genome. wi. mit. edu/genome_software/other/primer3. html.
    • (1998) Primer3
    • Rozen, S.1    Skaletsky, H.J.2
  • 35
    • 73449147027 scopus 로고    scopus 로고
    • Detection of increased amounts of cell-free fetal DNA with short PCR amplicons
    • Sikora A, Zimmermann BG, Rusterholz C et al (2010) Detection of increased amounts of cell-free fetal DNA with short PCR amplicons. Clin Chem 56: 136-138.
    • (2010) Clin Chem , vol.56 , pp. 136-138
    • Sikora, A.1    Zimmermann, B.G.2    Rusterholz, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.