Dual fluorescent in situ hybridisation for simultaneous detection of X and Y chromosome-specific probes for the sexing of human preimplantation embryonic nuclei
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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.
Keywords
Polymerase Chain Reaction Internal Medicine Metabolic Disease Genetic Disease Poor Quality
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References
- Cooke HJ, Schmidtke J, Gosden JR (1982) Characterisation of a human Y chromosome repeated sequence and related sequences in higher primates. Chromsoma 87:491–502Google Scholar
- 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 76:346–352Google Scholar
- 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 66:347–351Google Scholar
- 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 6:101–105Google Scholar
- 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 163:2013–2019Google Scholar
- 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 81–90Google Scholar
- Handyside AH, Pattinson JK, Penketh RJA, Delhanty JDA, Winston RML, Tuddenham EGD (1989) Biopsy of human preimplantation embryos and sexing by DNA amplification. Lancet 1:347–349Google Scholar
- Handyside AH, Kontogianni EH, Hardy K, Winston RML (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344:768–770Google Scholar
- 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 5:708–714Google Scholar
- 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 6:978–981Google Scholar
- Jones KW, Singh L, Edwards RG (1987) The use of probes for the Y chromosomes in preimplantation embryo cells. Hum Reprod 2:439–445Google Scholar
- 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 29:16–21Google Scholar
- 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 139–145Google Scholar
- 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 9:489–500Google Scholar
- Pinkel D, Straume T, Gray JM (1986) Cytogenetic analysis using quantitative high sensitivity, fluorescent hybridization. Proc Natl Acad Sci USA 83:2934–2938Google Scholar
- Quinn P, Barro C, Whittingham DG (1982) Preservation of hamster oocytes to assay the fertilising capacity of human spermatozoa. J Reprod Fertil 66:161–168Google Scholar
- 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 1:1345–1347Google Scholar
- 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 3:1010–1019Google Scholar
- Willard HF (1985) Chromosome-specific organization of human alpha satellite DNA. Am J Hum Genet 37:524–532Google Scholar
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