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Volumn 9, Issue 7-8, 2003, Pages 411-420

Detailed investigation of factors influencing amplification efficiency and allele drop-out in single cell PCR: Implications for preimplantation genetic diagnosis

Author keywords

Allele drop out; Preferential amplification; Preimplantation genetic diagnosis; Prenatal diagnosis; Single cell PCR

Indexed keywords

DNA;

EID: 0038148733     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/gag051     Document Type: Article
Times cited : (136)

References (36)
  • 1
    • 6844239539 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis of inherited cancer: Familial adenomatous polyposis coli
    • Ao, A., Wells, D., Handyside, A.H., Winston, R.M. and Delhanty, J.D. (1998) Preimplantation genetic diagnosis of inherited cancer: familial adenomatous polyposis coli. J. Assist. Reprod. Genet., 15, 140-144.
    • (1998) J. Assist. Reprod. Genet. , vol.15 , pp. 140-144
    • Ao, A.1    Wells, D.2    Handyside, A.H.3    Winston, R.M.4    Delhanty, J.D.5
  • 3
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
    • Brook, J.D., McCurrach, M.E., Harley, H.G., Buckler, A.J., Church, D., Aburatani, H., Hunter, K., Stanton, V.P., Thirion, J.P., Hudson, T. et al. (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell, 68, 799-808.
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3    Buckler, A.J.4    Church, D.5    Aburatani, H.6    Hunter, K.7    Stanton, V.P.8    Thirion, J.P.9    Hudson, T.10
  • 4
    • 0031264839 scopus 로고    scopus 로고
    • A technique for eliminating allele specific amplification failure during DNA amplification of heterozygous cells for preimplantation diagnosis
    • El-Hashemite, N. and Delhanty, J.D. (1997) A technique for eliminating allele specific amplification failure during DNA amplification of heterozygous cells for preimplantation diagnosis. Mol. Hum. Reprod., 3, 975-978.
    • (1997) Mol. Hum. Reprod. , vol.3 , pp. 975-978
    • El-Hashemite, N.1    Delhanty, J.D.2
  • 5
    • 0031196688 scopus 로고    scopus 로고
    • Single cell detection of beta-thalassaemia mutations using silver stained SSCP analysis: An application for preimplantation diagnosis
    • El-Hashemite, N., Wells, D. and Delhanty, J.D. (1997) Single cell detection of beta-thalassaemia mutations using silver stained SSCP analysis: an application for preimplantation diagnosis. Mol. Hum. Reprod., 3, 693-698.
    • (1997) Mol. Hum. Reprod. , vol.3 , pp. 693-698
    • El-Hashemite, N.1    Wells, D.2    Delhanty, J.D.3
  • 6
    • 0029038302 scopus 로고
    • Allelic drop-out and preferential amplification in single cells and human blastomeres: Implications for preimplantation diagnosis of sex and cystic fibrosis
    • Findlay, I., Ray, P., Quirke, P., Rutherford, A. and Lilford, R. (1995) Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis. Hum. Reprod., 10, 1609-1618.
    • (1995) Hum. Reprod. , vol.10 , pp. 1609-1618
    • Findlay, I.1    Ray, P.2    Quirke, P.3    Rutherford, A.4    Lilford, R.5
  • 8
    • 0032242849 scopus 로고    scopus 로고
    • Allele drop-out can occur in alleles differing by a single nucleotide and is not alleviated by preamplification or minor template increments
    • Hahn, S., Garvin, A.M., Di Naro, E. and Holzgreve, W. (1998) Allele drop-out can occur in alleles differing by a single nucleotide and is not alleviated by preamplification or minor template increments. Genet. Test., 2, 351-355.
    • (1998) Genet. Test. , vol.2 , pp. 351-355
    • Hahn, S.1    Garvin, A.M.2    Di Naro, E.3    Holzgreve, W.4
  • 9
    • 0028816762 scopus 로고
    • Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos
    • Harper, JC., Coonen, E., Handyside, A.H., Winston, R.M., Hopman, A.H. and Delhanty, J.D. (1995) Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos. Prenat. Diagn., 15, 41-49.
    • (1995) Prenat. Diagn. , vol.15 , pp. 41-49
    • Harper, J.C.1    Coonen, E.2    Handyside, A.H.3    Winston, R.M.4    Hopman, A.H.5    Delhanty, J.D.6
  • 10
    • 0028915875 scopus 로고
    • DNA polymorphisms in the lactase gene. Linkage disequilibrium across the 70-kb region
    • Harvey, C.B., Pratt, W.S., Islam, I., Whitehouse, D.B. and Swallow, D.M. (1995) DNA polymorphisms in the lactase gene. Linkage disequilibrium across the 70-kb region. Eur. J. Hum. Genet., 3, 27-41.
    • (1995) Eur. J. Hum. Genet. , vol.3 , pp. 27-41
    • Harvey, C.B.1    Pratt, W.S.2    Islam, I.3    Whitehouse, D.B.4    Swallow, D.M.5
  • 11
    • 0033378762 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassaemia major: Clinical experience including the initiation of six singleton pregnancies
    • Kanavakis, E., Vrettou, C., Palmer, G., Tzetis, M., Mastrominas, M. and Traeger-Synodinos, J. (1999) Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassaemia major: clinical experience including the initiation of six singleton pregnancies. Prenat. Diagn., 19, 1217-1222.
    • (1999) Prenat. Diagn. , vol.19 , pp. 1217-1222
    • Kanavakis, E.1    Vrettou, C.2    Palmer, G.3    Tzetis, M.4    Mastrominas, M.5    Traeger-Synodinos, J.6
  • 12
    • 0038769967 scopus 로고    scopus 로고
    • Diagnosis of trisomy 21 in preimplantation embryos by single-cell DNA fingerprinting
    • Katz, M.G., Mansfield, J., Gras, L., Trounson, A.O. and Cram, D.S. (2002) Diagnosis of trisomy 21 in preimplantation embryos by single-cell DNA fingerprinting. Reprod. Biomed. Online, 4, 43-50.
    • (2002) Reprod. Biomed. Online , vol.4 , pp. 43-50
    • Katz, M.G.1    Mansfield, J.2    Gras, L.3    Trounson, A.O.4    Cram, D.S.5
  • 15
    • 0031902605 scopus 로고    scopus 로고
    • Chromosomal mosaicism in cleavage-stage human embryos and the accuracy of single-cell genetic analysis
    • Kuo, H.C., Ogilvie, C.M. and Handyside, A.H. (1998) Chromosomal mosaicism in cleavage-stage human embryos and the accuracy of single-cell genetic analysis. J. Assist. Reprod. Genet., 15, 276-280.
    • (1998) J. Assist. Reprod. Genet. , vol.15 , pp. 276-280
    • Kuo, H.C.1    Ogilvie, C.M.2    Handyside, A.H.3
  • 16
    • 0027534753 scopus 로고
    • Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms
    • Mansfield, E.S. (1993) Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. Hum. Mol. Genet., 2, 43-50.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 43-50
    • Mansfield, E.S.1
  • 17
    • 0035059956 scopus 로고    scopus 로고
    • A successful strategy for preimplantation genetic diagnosis of myotonic dystrophy using multiplex fluorescent PCR
    • Piyamongkol, W., Harper, J.C., Sherlock, J.K., Doshi, A., Serhal, P.F., Delhanty, J.D. and Wells, D. (2001a) A successful strategy for preimplantation genetic diagnosis of myotonic dystrophy using multiplex fluorescent PCR. Prenat. Diagn., 21, 223-232.
    • (2001) Prenat. Diagn. , vol.21 , pp. 223-232
    • Piyamongkol, W.1    Harper, J.C.2    Sherlock, J.K.3    Doshi, A.4    Serhal, P.F.5    Delhanty, J.D.6    Wells, D.7
  • 18
    • 0034805203 scopus 로고    scopus 로고
    • Preimplantation genetic diagnostic protocols for alpha-and beta-thalassaemias using multiplex fluorescent PCR
    • Piyamongkol, W., Harper, J.C., Delhanty, J.D.A. and Wells, D. (2001b) Preimplantation genetic diagnostic protocols for alpha-and beta-thalassaemias using multiplex fluorescent PCR. Prenat. Diagn., 21, 753-759.
    • (2001) Prenat. Diagn. , vol.21 , pp. 753-759
    • Piyamongkol, W.1    Harper, J.C.2    Delhanty, J.D.A.3    Wells, D.4
  • 19
    • 0030089526 scopus 로고    scopus 로고
    • Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cell, for preimplantation genetic diagnosis
    • Ray, P.F. and Handyside, A.H. (1996) Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cell, for preimplantation genetic diagnosis. Mol. Hum. Reprod., 2, 213-218.
    • (1996) Mol. Hum. Reprod. , vol.2 , pp. 213-218
    • Ray, P.F.1    Handyside, A.H.2
  • 21
    • 0032439813 scopus 로고    scopus 로고
    • Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the delta F508 deletion causing cystic fibrosis in clinical practice
    • Ray, P.F., Ao, A., Taylor, D.M., Winston, R.M. and Handyside, A.H. (1998) Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the delta F508 deletion causing cystic fibrosis in clinical practice. Prenat. Diagn., 18, 1402-1412.
    • (1998) Prenat. Diagn. , vol.18 , pp. 1402-1412
    • Ray, P.F.1    Ao, A.2    Taylor, D.M.3    Winston, R.M.4    Handyside, A.H.5
  • 22
    • 0030020899 scopus 로고    scopus 로고
    • Allele dropout in sequential PCR and FISH analysis of single cells (cell recycling)
    • Rechitsky, S., Freidine, M., Verlinsky, Y. and Strom, C.M. (1996) Allele dropout in sequential PCR and FISH analysis of single cells (cell recycling). J. Assist. Reprod. Genet. 13, 115-124.
    • (1996) J. Assist. Reprod. Genet. , vol.13 , pp. 115-124
    • Rechitsky, S.1    Freidine, M.2    Verlinsky, Y.3    Strom, C.M.4
  • 24
    • 0030089840 scopus 로고    scopus 로고
    • Adaptation of the primer extension preamplification (PEP) reaction for preimplantation diagnosis: Single blastomere analysis using short PEP protocols
    • Sermon, K., Lissens, W., Joris, H., Van Steirteghem, A. and Liebaers, I. (1996) Adaptation of the primer extension preamplification (PEP) reaction for preimplantation diagnosis: single blastomere analysis using short PEP protocols. Mol. Hum. Reprod., 2, 209-212.
    • (1996) Mol. Hum. Reprod. , vol.2 , pp. 209-212
    • Sermon, K.1    Lissens, W.2    Joris, H.3    Van Steirteghem, A.4    Liebaers, I.5
  • 25
    • 0031872118 scopus 로고    scopus 로고
    • Fluorescent PCR and automated fragment analysis for the clinical application of preimplantation genetic diagnosis of myotonic dystrophy (Steinert's disease)
    • Sermon, K., De Vos, A., Van de Velde, H., Seneca, S., Lissens, W., Joris, H., Vandervorst, M., Van Steirteghem, A. and Liebaers, I. (1998) Fluorescent PCR and automated fragment analysis for the clinical application of preimplantation genetic diagnosis of myotonic dystrophy (Steinert's disease). Mol. Hum. Reprod., 4, 791-796.
    • (1998) Mol. Hum. Reprod. , vol.4 , pp. 791-796
    • Sermon, K.1    De Vos, A.2    Van de Velde, H.3    Seneca, S.4    Lissens, W.5    Joris, H.6    Vandervorst, M.7    Van Steirteghem, A.8    Liebaers, I.9
  • 26
    • 0029028913 scopus 로고
    • Simultaneous amplification of the two most frequent mutations of infantile Tay-Sachs disease in single blastomeres
    • Sermon, K., Lissens, W., Nagy, Z.P., Van Steirteghem, A. and Liebaers, I. (1995) Simultaneous amplification of the two most frequent mutations of infantile Tay-Sachs disease in single blastomeres. Hum. Reprod., 10, 2214-2217.
    • (1995) Hum. Reprod. , vol.10 , pp. 2214-2217
    • Sermon, K.1    Lissens, W.2    Nagy, Z.P.3    Van Steirteghem, A.4    Liebaers, I.5
  • 27
    • 0026849362 scopus 로고
    • Tetranucleotide repeat polymorphism at the D21S11 locus
    • Sharma, V. and Litt, M. (1992) Tetranucleotide repeat polymorphism at the D21S11 locus. Hum. Mol. Genet., 1, 67.
    • (1992) Hum. Mol. Genet. , vol.1 , pp. 67
    • Sharma, V.1    Litt, M.2
  • 28
    • 0031823425 scopus 로고    scopus 로고
    • Assessment of diagnostic quantitative fluorescent multiplex polymerase chain reaction assays performed on single cells
    • Sherlock, J., Cirigliano, V., Petrou, M., Tutschek, B. and Adinolfi, M. (1998) Assessment of diagnostic quantitative fluorescent multiplex polymerase chain reaction assays performed on single cells. Ann. Hum. Genet., 62, 9-23.
    • (1998) Ann. Hum. Genet. , vol.62 , pp. 9-23
    • Sherlock, J.1    Cirigliano, V.2    Petrou, M.3    Tutschek, B.4    Adinolfi, M.5
  • 29
    • 0034919617 scopus 로고    scopus 로고
    • A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis
    • Thornhill, A.R., McGrath, J.A., Eady, R.A., Braude, P.R. and Handyside, A.H. (2001) A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis. Prenat. Diagn., 21, 490-497.
    • (2001) Prenat. Diagn. , vol.21 , pp. 490-497
    • Thornhill, A.R.1    McGrath, J.A.2    Eady, R.A.3    Braude, P.R.4    Handyside, A.H.5
  • 30
    • 0030039857 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis
    • Verlinsky, Y. (1996) Preimplantation genetic diagnosis. J. Assist. Reprod. Genet., 13, 87-89.
    • (1996) J. Assist. Reprod. Genet. , vol.13 , pp. 87-89
    • Verlinsky, Y.1
  • 32
    • 0033378064 scopus 로고    scopus 로고
    • A widely applicable strategy for single cell genotyping of beta-thalassaemia mutations using DGGE analysis: Application to preimplantation genetic diagnosis
    • Vrettou, C., Palmer, G., Kanavakis, E., Tzetis, M., Antoniadi, T., Mastrominas, M. and Traeger-Synodinos, J. (1999) A widely applicable strategy for single cell genotyping of beta-thalassaemia mutations using DGGE analysis: application to preimplantation genetic diagnosis. Prenat. Diagn., 19, 1209-1216.
    • (1999) Prenat. Diagn. , vol.19 , pp. 1209-1216
    • Vrettou, C.1    Palmer, G.2    Kanavakis, E.3    Tzetis, M.4    Antoniadi, T.5    Mastrominas, M.6    Traeger-Synodinos, J.7
  • 33
    • 0026865024 scopus 로고
    • Preferential PCR amplification of alleles: Mechanisms and solutions
    • Walsh, P.S., Erlich, H.A. and Higuchi, R. (1992) Preferential PCR amplification of alleles: mechanisms and solutions. PCR Methods Appl., 1, 241-250.
    • (1992) PCR Methods Appl. , vol.1 , pp. 241-250
    • Walsh, P.S.1    Erlich, H.A.2    Higuchi, R.3
  • 34
    • 0024582686 scopus 로고
    • Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
    • Weber, J.L. and May, P.E. (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet. 44, 388-396.
    • (1989) Am. J. Hum. Genet. , vol.44 , pp. 388-396
    • Weber, J.L.1    May, P.E.2
  • 35
    • 0034478002 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis: Applications for molecular medicine
    • Wells, D. and Delhanty, J.D. (2001) Preimplantation genetic diagnosis: applications for molecular medicine. Trends Mol. Med., 7, 23-30.
    • (2001) Trends Mol. Med. , vol.7 , pp. 23-30
    • Wells, D.1    Delhanty, J.D.2
  • 36
    • 0032416351 scopus 로고    scopus 로고
    • Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification
    • Wells, D. and Sherlock, J.K. (1998) Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification. Prenat. Diagn., 18, 1389-1401.
    • (1998) Prenat. Diagn. , vol.18 , pp. 1389-1401
    • Wells, D.1    Sherlock, J.K.2


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