메뉴 건너뛰기




Volumn 47, Issue 3, 2009, Pages 367-375

Rapid mapping of chromosomal breakpoints: From blood to BAC in 20 days

Author keywords

Bacterial artificial chromosome (BAC); Chromosome aberration; Cytogenetics; DNA probes; Fluorescence in situ hybridization (FISH); IVF; PGD; Translocation

Indexed keywords

ADULT; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; BLASTOMERE; CASE REPORT; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION; DNA PROBE; FERTILIZATION IN VITRO; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN TISSUE; LYMPHOCYTE; MITOSIS; PRENATAL DIAGNOSIS; RECIPROCAL CHROMOSOME TRANSLOCATION;

EID: 73549113993     PISSN: 02398508     EISSN: None     Source Type: Journal    
DOI: 10.2478/v10042-009-0067-2     Document Type: Article
Times cited : (6)

References (36)
  • 1
    • 0018972153 scopus 로고
    • Reciprocal translocation with special reference to reproductive failure
    • Subrt I. Reciprocal translocation with special reference to reproductive failure. Hum Genet. 1980;55:303-307.
    • (1980) Hum Genet , vol.55 , pp. 303-307
    • Subrt, I.1
  • 2
    • 33749152568 scopus 로고    scopus 로고
    • Prenatally diagnosed balanced chromosome rearrangements: Eight years' experience
    • Peng HH, Chao AS, Wang TH, Chang YL, Chang SD. Prenatally diagnosed balanced chromosome rearrangements: eight years' experience. J Reprod Med. 2006;51:699-703.
    • (2006) J Reprod Med , vol.51 , pp. 699-703
    • Peng, H.H.1    Chao, A.S.2    Wang, T.H.3    Chang, Y.L.4    Chang, S.D.5
  • 3
    • 0032780568 scopus 로고    scopus 로고
    • Chromosome translocations in couples with in vitro fertilisation implantation failure
    • Stern C, Pertile M, Norris H. Chromosome translocations in couples with in vitro fertilisation implantation failure. Hum Reprod. 1999;14:2097-2101.
    • (1999) Hum Reprod , vol.14 , pp. 2097-2101
    • Stern, C.1    Pertile, M.2    Norris, H.3
  • 5
    • 0034049607 scopus 로고    scopus 로고
    • Pathogenesis of chromosomal mosaicism and its effect on early human development
    • Kalousek DK. Pathogenesis of chromosomal mosaicism and its effect on early human development. Am J Med Genet. 2000;91:39-45.
    • (2000) Am J Med Genet , vol.91 , pp. 39-45
    • Kalousek, D.K.1
  • 6
    • 0036490364 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities
    • Munné S. Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities. Reprod Biomed Online. 2002;4:183-196.
    • (2002) Reprod Biomed Online , vol.4 , pp. 183-196
    • Munné, S.1
  • 8
    • 0028141729 scopus 로고
    • Mosaicism and aneuploidy in arrested human preimplantation embryos: A multiple probe fluorescence in situ hybridization (FISH) study
    • Munné S, Grifo J, Cohen J, Weier H-UG. Mosaicism and aneuploidy in arrested human preimplantation embryos: a multiple probe fluorescence in situ hybridization (FISH) study. Am J Hum Genet. 1994;55:150-159.
    • (1994) Am J Hum Genet , vol.55 , pp. 150-159
    • Munné, S.1    Grifo, J.2    Cohen, J.3    Weier, H.-U.G.4
  • 12
    • 0000009488 scopus 로고    scopus 로고
    • Carrier-specific breakpoint-spanning DNA probes for pre-implantation genetic diagnosis [PGD] in interphase cells
    • Cassel MJ, Munné S, Fung J, Weier H-UG. Carrier-specific breakpoint-spanning DNA probes for pre-implantation genetic diagnosis [PGD] in interphase cells. Hum Reprod. 1997;12:101-109.
    • (1997) Hum Reprod , vol.12 , pp. 101-109
    • Cassel, M.J.1    Munné, S.2    Fung, J.3    Weier, H.-U.G.4
  • 13
    • 0031835966 scopus 로고    scopus 로고
    • Rapid cloning of translocation breakpoints: From blood to YAC in 50 days
    • Fung J, Munné S, Duell T, Weier H-UG. Rapid cloning of translocation breakpoints: from blood to YAC in 50 days. J Biochem Mol Biol Biophys. 1998;1:181-192.
    • (1998) J Biochem Mol Biol Biophys , vol.1 , pp. 181-192
    • Fung, J.1    Munné, S.2    Duell, T.3    Weier, H.-U.G.4
  • 14
    • 0033389148 scopus 로고    scopus 로고
    • Reciprocal translocations and infertility: Molecular cloning of breakpoints in a case of constitutional translocation t(11;22)(q23;q11) and preparation of probes for preimplantation genetic diagnosis (PGD)
    • Fung J, Munné S, Garcia J, Kim U-J, Weier H-UG. Reciprocal translocations and infertility: molecular cloning of breakpoints in a case of constitutional translocation t(11;22)(q23;q11) and preparation of probes for preimplantation genetic diagnosis (PGD). Reprod Fert Dev. 1999;11:17-23.
    • (1999) Reprod Fert Dev , vol.11 , pp. 17-23
    • Fung, J.1    Munné, S.2    Garcia, J.3    Kim, U.-J.4    Weier, H.-U.G.5
  • 15
    • 0031879163 scopus 로고    scopus 로고
    • Preimplantation genetic analysis of translocations: Case-specific probes for interphase cell analysis
    • Munné S, Fung J, Cassel MJ, Márquez C, Weier H-UG. Preimplantation genetic analysis of translocations: case-specific probes for interphase cell analysis. Human Genetics. 1998;102:663-674.
    • (1998) Human Genetics , vol.102 , pp. 663-674
    • Munné, S.1    Fung, J.2    Cassel, M.J.3    Márquez, C.4    Weier, H.-U.G.5
  • 16
    • 0032954899 scopus 로고    scopus 로고
    • Patient-specific Probes for Preimplantation Genetic Diagnosis (PGD) of Structural and Numerical Aberrations in Interphase Cells
    • Weier HUG, Munné S, Fung J. Patient-specific Probes for Preimplantation Genetic Diagnosis (PGD) of Structural and Numerical Aberrations in Interphase Cells. J Assist Reprod Genet. 1999;16:182-189.
    • (1999) J Assist Reprod Genet , vol.16 , pp. 182-189
    • Weier, H.U.G.1    Munné, S.2    Fung, J.3
  • 18
    • 0026703169 scopus 로고
    • Cloning and stable maintenance of 300-kilo-base-pair fragments of human DNA in Escherichia coli using an F-factor-based vector
    • Shizuya H, Birren B, Kim UJ, Mancino V, Slepak T, Tachiiri Y, Simon M. Cloning and stable maintenance of 300-kilo-base-pair fragments of human DNA in Escherichia coli using an F-factor-based vector. Proc Natl Acad Sci USA. 1992;89:8794-8797.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 8794-8797
    • Shizuya, H.1    Birren, B.2    Kim, U.J.3    Mancino, V.4    Slepak, T.5    Tachiiri, Y.6    Simon, M.7
  • 23
    • 0030924230 scopus 로고    scopus 로고
    • Defining the role of fluorescence in situ hybridization on uncultured amniocytes for prenatal diagnosis of aneuploidies
    • D'Alton ME, Malone FD, Chelmow D, Ward BE, Bianchi DW. Defining the role of fluorescence in situ hybridization on uncultured amniocytes for prenatal diagnosis of aneuploidies. Am J Obstet Gynecol. 1997;176:769-776.
    • (1997) Am J Obstet Gynecol , vol.176 , pp. 769-776
    • D'Alton, M.E.1    Malone, F.D.2    Chelmow, D.3    Ward, B.E.4    Bianchi, D.W.5
  • 24
    • 0041834910 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis by fluorescence in situ hybridization: Clinical possibilities and pitfalls
    • Pehlivan T, Rubio C, Rodrigo L, Remohi J, Pellicer A, Simon C. Preimplantation genetic diagnosis by fluorescence in situ hybridization: clinical possibilities and pitfalls. J Soc Gynecol Investig. 2003;10:315-322.
    • (2003) J Soc Gynecol Investig , vol.10 , pp. 315-322
    • Pehlivan, T.1    Rubio, C.2    Rodrigo, L.3    Remohi, J.4    Pellicer, A.5    Simon, C.6
  • 25
    • 33744506062 scopus 로고    scopus 로고
    • Using BAC clones to characterize unbalanced chromosome abnormalities in interphase cells
    • Plastira K, Maher E, Fantes J, Ramsay J, Angelopoulou R. Using BAC clones to characterize unbalanced chromosome abnormalities in interphase cells. Eur J Med Genet. 2006;49:235-246.
    • (2006) Eur J Med Genet , vol.49 , pp. 235-246
    • Plastira, K.1    Maher, E.2    Fantes, J.3    Ramsay, J.4    Angelopoulou, R.5
  • 26
    • 0005951991 scopus 로고    scopus 로고
    • Spectral Imaging Analysis of Metaphase and Interphase Cells
    • Rautenstrauss B, Liehr T, eds, Heidelberg, Germany: Springer Verlag;
    • Fung J, Weier H-UG, Pedersen RA, Zitzelsberger HF. Spectral Imaging Analysis of Metaphase and Interphase Cells. In: Rautenstrauss B, Liehr T, eds. FISH Technology. Heidelberg, Germany: Springer Verlag; 2002:363-387.
    • (2002) FISH Technology , pp. 363-387
    • Fung, J.1    Weier, H.-U.G.2    Pedersen, R.A.3    Zitzelsberger, H.F.4
  • 27
    • 85009306102 scopus 로고    scopus 로고
    • Bayani J, Squire JA. Preparation of cytogenetic specimens from tissue samples. In: Bonifacino JS, ed. Current Protocols in Cell Biology, Suppl 23. New York, John Wiley & Sons, Inc.; 2004:22.2.1-22.2.15.
    • Bayani J, Squire JA. Preparation of cytogenetic specimens from tissue samples. In: Bonifacino JS, ed. Current Protocols in Cell Biology, Suppl 23. New York, John Wiley & Sons, Inc.; 2004:22.2.1-22.2.15.
  • 28
    • 0028942724 scopus 로고
    • Rapid physical mapping of the human trk protooncogene (NTRK1) to human chromosome 1q21-q22 by P1 clone selection, fluorescence in situ hybridization (FISH), and computer-assisted microscopy
    • Weier HU, Rhein AP, Shadravan F, Collins C, Polikoff D. Rapid physical mapping of the human trk protooncogene (NTRK1) to human chromosome 1q21-q22 by P1 clone selection, fluorescence in situ hybridization (FISH), and computer-assisted microscopy. Genomics. 1995;26:390-393.
    • (1995) Genomics , vol.26 , pp. 390-393
    • Weier, H.U.1    Rhein, A.P.2    Shadravan, F.3    Collins, C.4    Polikoff, D.5
  • 29
    • 0034529265 scopus 로고    scopus 로고
    • Multilocus genetic analysis of single interphase cells by spectral imaging
    • Fung J, Weier H-UG, Goldberg JD, Pedersen RA. Multilocus genetic analysis of single interphase cells by spectral imaging. Hum Genet. 2000;107:615-622.
    • (2000) Hum Genet , vol.107 , pp. 615-622
    • Fung, J.1    Weier, H.-U.G.2    Goldberg, J.D.3    Pedersen, R.A.4
  • 32
    • 33748474983 scopus 로고    scopus 로고
    • Interphase M-FISH applications using commercial probes in prenatal and PGD diagnostics
    • Stumm M, Wegner R-D, Bloechle M, Eckel H. Interphase M-FISH applications using commercial probes in prenatal and PGD diagnostics. Cytogenet Genome Res. 2006;114:296-301.
    • (2006) Cytogenet Genome Res , vol.114 , pp. 296-301
    • Stumm, M.1    Wegner, R.-D.2    Bloechle, M.3    Eckel, H.4
  • 33
    • 0023414542 scopus 로고
    • Chromosome-specific alpha satellite DNA from human chromosome 1: Hierarchical structure and genomic organization of a polymorphic domain spanning several hundred kilobase pairs of centromeric DNA
    • Waye JS, Durfy SJ, Pinkel D, Kenwrick S, Patterson M, Davies KE, Willard HF. Chromosome-specific alpha satellite DNA from human chromosome 1: hierarchical structure and genomic organization of a polymorphic domain spanning several hundred kilobase pairs of centromeric DNA. Genomics. 1987;1:43-51.
    • (1987) Genomics , vol.1 , pp. 43-51
    • Waye, J.S.1    Durfy, S.J.2    Pinkel, D.3    Kenwrick, S.4    Patterson, M.5    Davies, K.E.6    Willard, H.F.7
  • 35
    • 0032425535 scopus 로고    scopus 로고
    • Chromosome translocation: Segregation modes and strategies for preimplantation genetic diagnosis
    • Scriven PN, Handyside AH, Ogilvie CM. Chromosome translocation: segregation modes and strategies for preimplantation genetic diagnosis. Prenat Diagn. 1998;18:1437-1449
    • (1998) Prenat Diagn , vol.18 , pp. 1437-1449
    • Scriven, P.N.1    Handyside, A.H.2    Ogilvie, C.M.3
  • 36
    • 0035219772 scopus 로고    scopus 로고
    • Fung J, Munné S, Weier H-UG. Detection of chromosome translocation products in single interphase cell nuclei. In Darzynkiewicz Z, Chrissman HA, Robinson J.P, eds. Methods in Cell Biology, 64, Part B, Cytometry, 3rd ed. San Diego, Academic Press, 2001:98-117.
    • Fung J, Munné S, Weier H-UG. Detection of chromosome translocation products in single interphase cell nuclei. In Darzynkiewicz Z, Chrissman HA, Robinson J.P, eds. Methods in Cell Biology, Vol. 64, Part B, Cytometry, 3rd ed. San Diego, Academic Press, 2001:98-117.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.