Abstract
Gene sequences in human oocytes were studied to investigate the possibility of diagnosing inherited or sporadic genetic disease before implantation after in vitro fertilisation. By specific amplification the possibility of analysing the DNA from single human oocytes for a specific gene was shown, and genotypes for markers closely linked to cystic fibrosis and Duchenne muscular dystrophy were determined. Single oocytes were used to approximate the total amount of DNA present in a single cell taken for biopsy from a 4-16 cell blastocyst. With a new technique for specific DNA amplification, the polymerase chain reaction, these data can be obtained within several hours of cell isolation. Extreme care must be taken to avoid any contamination of the sample with DNA from other sources. With this technique genotyping for single gene disorders is feasible with an accuracy and on a time scale that would allow implantation of the zygote after in vitro fertilisation without freezing.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Cooper D. N., Schmidtke J. Diagnosis of genetic disease using recombinant DNA. Supplement. Hum Genet. 1987 Sep;77(1):66–75. doi: 10.1007/BF00284717. [DOI] [PubMed] [Google Scholar]
- Edwards R. G., Hollands P. New advances in human embryology: implications of the preimplantation diagnosis of genetic disease. Hum Reprod. 1988 May;3(4):549–556. doi: 10.1093/oxfordjournals.humrep.a136742. [DOI] [PubMed] [Google Scholar]
- Estivill X., Farrall M., Scambler P. J., Bell G. M., Hawley K. M., Lench N. J., Bates G. P., Kruyer H. C., Frederick P. A., Stanier P. A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. 1987 Apr 30-May 6Nature. 326(6116):840–845. doi: 10.1038/326840a0. [DOI] [PubMed] [Google Scholar]
- Feldman G. L., Williamson R., Beaudet A. L., O'Brien W. E. Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism. Lancet. 1988 Jul 9;2(8602):102–102. doi: 10.1016/s0140-6736(88)90030-x. [DOI] [PubMed] [Google Scholar]
- Handyside A. H., Pattinson J. K., Penketh R. J., Delhanty J. D., Winston R. M., Tuddenham E. G. Biopsy of human preimplantation embryos and sexing by DNA amplification. Lancet. 1989 Feb 18;1(8634):347–349. doi: 10.1016/s0140-6736(89)91723-6. [DOI] [PubMed] [Google Scholar]
- Koenig M., Monaco A. P., Kunkel L. M. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell. 1988 Apr 22;53(2):219–228. doi: 10.1016/0092-8674(88)90383-2. [DOI] [PubMed] [Google Scholar]
- Lench N., Stanier P., Williamson R. Simple non-invasive method to obtain DNA for gene analysis. Lancet. 1988 Jun 18;1(8599):1356–1358. doi: 10.1016/s0140-6736(88)92178-2. [DOI] [PubMed] [Google Scholar]
- Li H. H., Gyllensten U. B., Cui X. F., Saiki R. K., Erlich H. A., Arnheim N. Amplification and analysis of DNA sequences in single human sperm and diploid cells. Nature. 1988 Sep 29;335(6189):414–417. doi: 10.1038/335414a0. [DOI] [PubMed] [Google Scholar]
- Penketh R., McLaren A. Prospects for prenatal diagnosis during preimplantation human development. Baillieres Clin Obstet Gynaecol. 1987 Sep;1(3):747–764. doi: 10.1016/s0950-3552(87)80015-9. [DOI] [PubMed] [Google Scholar]
- Rutherford A. J., Subak-Sharpe R. J., Dawson K. J., Margara R. A., Franks S., Winston R. M. Improvement of in vitro fertilisation after treatment with buserelin, an agonist of luteinising hormone releasing hormone. Br Med J (Clin Res Ed) 1988 Jun 25;296(6639):1765–1768. doi: 10.1136/bmj.296.6639.1765. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Saiki R. K., Scharf S., Faloona F., Mullis K. B., Horn G. T., Erlich H. A., Arnheim N. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science. 1985 Dec 20;230(4732):1350–1354. doi: 10.1126/science.2999980. [DOI] [PubMed] [Google Scholar]
- Wainwright B. J., Scambler P. J., Stanier P., Watson E. K., Bell G., Wicking C., Estivill X., Courtney M., Boue A., Pedersen P. S. Isolation of a human gene with protein sequence similarity to human and murine int-1 and the Drosophila segment polarity mutant wingless. EMBO J. 1988 Jun;7(6):1743–1748. doi: 10.1002/j.1460-2075.1988.tb03003.x. [DOI] [PMC free article] [PubMed] [Google Scholar]