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. 1984 Jul 14;289(6437):73–76. doi: 10.1136/bmj.289.6437.73

Rapid and early determination of sex using trophoblast biopsy specimens and Y chromosome specific DNA probes.

G Vergnaud, L Kaplan, J Weissenbach, Y Dumez, R Berger, P Tiollais, G Guellaen
PMCID: PMC1441956  PMID: 6428684

Abstract

The feasibility of determining sex by analysing deoxyribonucleic acid (DNA) with two probes specific for Y chromosomes was shown using DNA obtained from samples of blood from 30 non-related males and females of different ethnic origin. The DNA was spotted on nitrocellulose filters and hybridised with both a repetitive (P1) and a unique (49f) sequence specific for the human Y chromosome. A strong positive signal with both probes indicated the presence of male DNA. The sex of 12 fetuses was then similarly determined by molecular characterisation of DNA from trophoblast biopsy specimens. Chorionic samples were obtained in seven cases before termination of pregnancy in the first trimester and the aborted embryos subjected to karyotyping and sex chromatin analysis. In the five other cases samples were obtained from placentas obtained during caesarean section. Results of hybridisation were compared with those from cytogenic studies and actual sex at birth. The sex of all 12 fetuses was determined correctly by hybridisation.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bernheim A., Metezeau P., Guellaën G., Fellous M., Goldberg M. E., Berger R. Direct hybridization of sorted human chromosomes: localization of the Y chromosome on the flow karyotype. Proc Natl Acad Sci U S A. 1983 Dec;80(24):7571–7575. doi: 10.1073/pnas.80.24.7571. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Bishop C. E., Guellaen G., Geldwerth D., Voss R., Fellous M., Weissenbach J. Single-copy DNA sequences specific for the human Y chromosome. Nature. 1983 Jun 30;303(5920):831–832. doi: 10.1038/303831a0. [DOI] [PubMed] [Google Scholar]
  3. Bishop C., Guellaen G., Geldwerth D., Fellous M., Weissenbach J. Extensive sequence homologies between Y and other human chromosomes. J Mol Biol. 1984 Mar 15;173(4):403–417. doi: 10.1016/0022-2836(84)90388-7. [DOI] [PubMed] [Google Scholar]
  4. Bostock C. J., Gosden J. R., Mitchell A. R. Localisation of a male-specific DNA fragment to a sub-region of the human Y chromosome. Nature. 1978 Mar 23;272(5651):324–328. doi: 10.1038/272324a0. [DOI] [PubMed] [Google Scholar]
  5. Cooke H. J., Noel B. Confirmation of Y/autosome translocation using recombinant DNA. Hum Genet. 1979;50(1):39–44. doi: 10.1007/BF00295587. [DOI] [PubMed] [Google Scholar]
  6. Cooke H. Repeated sequence specific to human males. Nature. 1976 Jul 15;262(5565):182–186. doi: 10.1038/262182a0. [DOI] [PubMed] [Google Scholar]
  7. Goossens M., Dumez Y., Kaplan L., Lupker M., Chabret C., Henrion R., Rosa J. Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy. N Engl J Med. 1983 Oct 6;309(14):831–833. doi: 10.1056/NEJM198310063091405. [DOI] [PubMed] [Google Scholar]
  8. Gosden J. R., Mitchell A. R., Gosden C. M., Rodeck C. H., Morsman J. M. Direct vision chorion biopsy and chromosome-specific DNA probes for determination of fetal sex in first-trimester prenatal diagnosis. Lancet. 1982 Dec 25;2(8313):1416–1419. doi: 10.1016/s0140-6736(82)91325-3. [DOI] [PubMed] [Google Scholar]
  9. Lau Y. F., Huang J. C., Dozy A. M., Kan Y. W. A rapid screening test for antenatal sex determination. Lancet. 1984 Jan 7;1(8367):14–16. doi: 10.1016/s0140-6736(84)90182-x. [DOI] [PubMed] [Google Scholar]
  10. Rubin C. M., Houck C. M., Deininger P. L., Friedmann T., Schmid C. W. Partial nucleotide sequence of the 300-nucleotide interspersed repeated human DNA sequences. Nature. 1980 Mar 27;284(5754):372–374. doi: 10.1038/284372a0. [DOI] [PubMed] [Google Scholar]
  11. Simoni G., Brambati B., Danesino C., Rossella F., Terzoli G. L., Ferrari M., Fraccaro M. Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet. 1983;63(4):349–357. doi: 10.1007/BF00274761. [DOI] [PubMed] [Google Scholar]
  12. Ward R. H., Modell B., Petrou M., Karagözlu F., Douratsos E. Method of sampling chorionic villi in first trimester of pregnancy under guidance of real time ultrasound. Br Med J (Clin Res Ed) 1983 May 14;286(6377):1542–1544. doi: 10.1136/bmj.286.6377.1542. [DOI] [PMC free article] [PubMed] [Google Scholar]

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