Summary
Dual fluorescent in situ hybridisation has been used for the simultaneous detection of X and Y chromosome-specific probes in single cleavage nuclei from disaggregated 4- to 7-cell human embryos. Based on the presence of a Y signal or 2 X signals in the absence of a Y, 89% of poor quality metaphases and 72% of interphase nuclei could be classified as male or female. With further refinements, this technique will offer a credible alternative to the polymerase chain reaction for the diagnosis of sex in human preimplantation embryos in families segregating for X-linked genetic disease.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Cooke HJ, Schmidtke J, Gosden JR (1982) Characterisation of a human Y chromosome repeated sequence and related sequences in higher primates. Chromsoma 87:491–502
Cremer T, Landegent J, Bruckner A, Scholl HP, Schardin M, Hager HD, Devillee P, Pearson P, Ploeg M van der (1986) Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L 1.84. Hum Genet 76:346–352
Gosden JR, Gosden CM, Christie S, Cooke HJ, Morsman JM, Rodeck CH (1984) The use of cloned Y chromosome-specific DNA probes for fetal sex determination in first trimester prenatal diagnosis. Hum Genet 66:347–351
Griffin DK, Handyside AH, Penketh RJA, Wintson RML, Delhanty JDA (1991) Fluorescent in-situ hybridisation to interphase nuclei of human preimplantation embryos with X and Y chromosome specific probes. Hum Reprod 6:101–105
Grifo JA, Boyle A, Fischer E, Lavy G, DeCherney AH, Ward DC, Sanyal MK (1990) Pre-embryo biopsy and analysis of blastomeres by in situ hybridisation. Am J Obstet Gynecol 163:2013–2019
Handyside AH (1991) Preimplantation diagnosis by DNA amplification. In: Chapman M, Grudzinskas G, Chard T, Maxwell D (eds) The embryo: normal development and growth. Springer London Berlin Heidelberg New York, pp 81–90
Handyside AH, Pattinson JK, Penketh RJA, Delhanty JDA, Winston RML, Tuddenham EGD (1989) Biopsy of human preimplantation embryos and sexing by DNA amplification. Lancet 1:347–349
Handyside AH, Kontogianni EH, Hardy K, Winston RML (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344:768–770
Hardy K, Martin KL, Leese HJ, Winston RML, Handyside AH (1990) Human preimplantation development in vitro is not adversely affected by biopsy at the 8-cell stage. Hum Reprod 5:708–714
Heiles HBJ, Genersch E, Kessler C, Neumann R, Eggers HJ (1988) In situ hybridisation with digoxigenin labelled DNA of human papilloma viruses (HPV 16/18) in HeLa and SiHa cells. Biotechniques 6:978–981
Jones KW, Singh L, Edwards RG (1987) The use of probes for the Y chromosomes in preimplantation embryo cells. Hum Reprod 2:439–445
Kola I, Wilton LJ (1991) Preimplantation embryo biopsy: detection of trisomy in a single cell biopsied from a four-cell mouse embryo. Mol Reprod Dev 29:16–21
Kontogianni EH, Hardy K, Handyside AH (1991) Co-amplification of X- and Y-specific sequences for sexing preimplantation human embryos. In: Verlinsky Y, Strom C (eds) Proceedings of the First Symposium on Preimplantation Genetics. Plenum Press, New York, pp 139–145
Penketh RJA, Delhanty JDA, Berghe JA van den, Finkelstone EM, Handyside AH, Malcolm S, Winston RML (1989) Rapid sexing of human embryos by non-radioactive in situ hybridization: potential for preimplantation diagnosis of X-linked disorders. Prenat Diagn 9:489–500
Pinkel D, Straume T, Gray JM (1986) Cytogenetic analysis using quantitative high sensitivity, fluorescent hybridization. Proc Natl Acad Sci USA 83:2934–2938
Quinn P, Barro C, Whittingham DG (1982) Preservation of hamster oocytes to assay the fertilising capacity of human spermatozoa. J Reprod Fertil 66:161–168
West JD, Gosden JR, Angell RR, Hastie ND, Thatcher SS, Glasier AF, Baird DT (1987) Sexing the human pre-embryo by DNA-DNA in situ hybridisation. Lancet 1:1345–1347
West JD, Gosden JR, Angell RR, West KM, Glasier AF, Thatcher SS, Baird DT (1988) Sexing whole human pre-embryos by in situ hybridisation with a Y-chromosome specific DNA probe. Hum Reprod 3:1010–1019
Willard HF (1985) Chromosome-specific organization of human alpha satellite DNA. Am J Hum Genet 37:524–532
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Griffin, D.K., Wilton, L.J., Handvside, A.H. et al. Dual fluorescent in situ hybridisation for simultaneous detection of X and Y chromosome-specific probes for the sexing of human preimplantation embryonic nuclei. Hum Genet 89, 18–22 (1992). https://doi.org/10.1007/BF00207035
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00207035