384
JINGLY FUNG et aJ.
taneously score at least 8 chromosomes in a single nuclei. The probe set
described in this chapter was chosen to allow the simultaneous enumeration of 8 chromosome types. In fact, the probe set described here, i.e., human chromosomes 13, 15, 16, 18, 21, 22, X, and Y, is expected to detect
more than 70% of all numerical chromosome aberrations responsible for
spontaneous abortions in humans. Thus, Slm has become a powerful tool
for multilocus genetic analysis of single interphase cells such as blastomeres from preimplantation embryos, uncultured amniocytes from amniocentesis, fetal cells from maternal blood, and tissue samples.
Acknowledgements. We thank Drs. S.H. Kim and R. Jensen, UCSF Cancer Center, for providing metaphase spreads from TSUPRI. This work was supported in part by the European
Community, grant F14PCT950001L, by the US Department of Energy under contract DEAC-03-76SF00098 and a grant from the National Institute of Health (IR21 CA88258). J.F.
was supported in part by a NIEHS training grant 5-T32-ES07106-17. This publication was
made possible by funds received from the Cancer Research Fund, under Interagency Agreement #97-12013 (University of California, Davis contract #00-00801 V-20056) with the Department of Health Services, Cancer Research Section.
References
Fung J, Hyun W, Dandekar P, Pedersen RA, Weier, H.UG (1998) Spectral imaging in
preconception / preimplantation genetic diagnosis (PGD) of aneuploidy: multi-colour, multi-chromosome screening of single cells. J Assist Reprod Genet 15:322-329
Garini Y, Macville M, du Manoir S, Buckwald RA, Lavi M, Katzir N, Wine D, Bar-Am I,
Schrock E, Cabib D, Ried T (1996) Spectral Karyotyping. Bioimaging 4:65-72
Liyanage M, Coleman A, du Manoir S, Veldman T, McCormack S, Dickson RB, Barlow
C, Wynshaw-Boris A, Janz S, Wienberg J, Ferguson-Smith MA, Schrock E, Ried T
(1996) Multicolour spectral karyotyping of mouse chromosomes. Nat Genet 14:312315
Marquez C, Cohen J, Munne S (1998) Chromosome identification in human oocytes
and polar bodies by spectral karyotyping. Cytogenet Cell Genet 81:254-258
Ning Y, Laundon CH, Schrock E, Buchanan P, Ried T (1999) Prenatal diagnosis of a
mosaic extra structurally abnormal chromosome by spectral karyotyping. Prenatal
Diagnosis 19:480-482
Schrock E, du Manoir S, Veldman T, Schoell B, Wienberg J, Fergueson-Smith M, Ning
Y, Ledbetter D, Bar-Am I, Soenksen D, Garini Y, Ried T (1996) Multicolor spectral
karyotyping of human chromosomes. Science 273:494-497
Telenius H, Pelmear AH, Tunnacliffe A, Carter NP, Behmel A, Ferguson-Smith MA,
Nordenskjold M, pfragner R (1992) Cytogenetic analysis by chromosome painting
using DOP-PCR amplified flow-sorted chromosomes. Genes Chromosomes Cancer
4:257-263
Willadsen S, Levronm J, Munne S, Schimmel T, Marquez C, Scott R, Cohen J (1999)
Rapid visualization of metaphase chromosomes in single human blastomeres after
fusion with in vitro matured bovine eggs. Hum Reprod 2:470-475
JINGLY FUNG et aJ.
taneously score at least 8 chromosomes in a single nuclei. The probe set
described in this chapter was chosen to allow the simultaneous enumeration of 8 chromosome types. In fact, the probe set described here, i.e., human chromosomes 13, 15, 16, 18, 21, 22, X, and Y, is expected to detect
more than 70% of all numerical chromosome aberrations responsible for
spontaneous abortions in humans. Thus, Slm has become a powerful tool
for multilocus genetic analysis of single interphase cells such as blastomeres from preimplantation embryos, uncultured amniocytes from amniocentesis, fetal cells from maternal blood, and tissue samples.
Acknowledgements. We thank Drs. S.H. Kim and R. Jensen, UCSF Cancer Center, for providing metaphase spreads from TSUPRI. This work was supported in part by the European
Community, grant F14PCT950001L, by the US Department of Energy under contract DEAC-03-76SF00098 and a grant from the National Institute of Health (IR21 CA88258). J.F.
was supported in part by a NIEHS training grant 5-T32-ES07106-17. This publication was
made possible by funds received from the Cancer Research Fund, under Interagency Agreement #97-12013 (University of California, Davis contract #00-00801 V-20056) with the Department of Health Services, Cancer Research Section.
References
Fung J, Hyun W, Dandekar P, Pedersen RA, Weier, H.UG (1998) Spectral imaging in
preconception / preimplantation genetic diagnosis (PGD) of aneuploidy: multi-colour, multi-chromosome screening of single cells. J Assist Reprod Genet 15:322-329
Garini Y, Macville M, du Manoir S, Buckwald RA, Lavi M, Katzir N, Wine D, Bar-Am I,
Schrock E, Cabib D, Ried T (1996) Spectral Karyotyping. Bioimaging 4:65-72
Liyanage M, Coleman A, du Manoir S, Veldman T, McCormack S, Dickson RB, Barlow
C, Wynshaw-Boris A, Janz S, Wienberg J, Ferguson-Smith MA, Schrock E, Ried T
(1996) Multicolour spectral karyotyping of mouse chromosomes. Nat Genet 14:312315
Marquez C, Cohen J, Munne S (1998) Chromosome identification in human oocytes
and polar bodies by spectral karyotyping. Cytogenet Cell Genet 81:254-258
Ning Y, Laundon CH, Schrock E, Buchanan P, Ried T (1999) Prenatal diagnosis of a
mosaic extra structurally abnormal chromosome by spectral karyotyping. Prenatal
Diagnosis 19:480-482
Schrock E, du Manoir S, Veldman T, Schoell B, Wienberg J, Fergueson-Smith M, Ning
Y, Ledbetter D, Bar-Am I, Soenksen D, Garini Y, Ried T (1996) Multicolor spectral
karyotyping of human chromosomes. Science 273:494-497
Telenius H, Pelmear AH, Tunnacliffe A, Carter NP, Behmel A, Ferguson-Smith MA,
Nordenskjold M, pfragner R (1992) Cytogenetic analysis by chromosome painting
using DOP-PCR amplified flow-sorted chromosomes. Genes Chromosomes Cancer
4:257-263
Willadsen S, Levronm J, Munne S, Schimmel T, Marquez C, Scott R, Cohen J (1999)
Rapid visualization of metaphase chromosomes in single human blastomeres after
fusion with in vitro matured bovine eggs. Hum Reprod 2:470-475