Abstract
OBJECTIVE: To perform genetic sex typing during the Barcelona Olympic Games using polymerase chain reaction (PCR) amplification of Y chromosome specific sequences. METHODS: The assay consisted of the amplification of a specific sequence corresponding to the repeat DYZ1 element from buccal smears samples of 2406 female competitors. Positive samples were reanalysed for the presence of another Y chromosome specific gene, SRY. RESULTS: The expression of these two elements did not always correlate; six samples were found where the presence of DYZ1 but not SRY was detected. This presence of DYZ1 sequence in female athletes is higher than in unselected females, where no DYZ1 amplification was observed in any of the 1629 samples analysed. CONCLUSIONS: Amplification of DYZ1 repeat should not be used as the only index for determining genetic sex, at least in sporting events.
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.
- Anderson S., Bankier A. T., Barrell B. G., de Bruijn M. H., Coulson A. R., Drouin J., Eperon I. C., Nierlich D. P., Roe B. A., Sanger F. Sequence and organization of the human mitochondrial genome. Nature. 1981 Apr 9;290(5806):457–465. doi: 10.1038/290457a0. [DOI] [PubMed] [Google Scholar]
- Betz P., Baretton G., Tübel J., Nerlich A., Eisenmenger W. Morphological detection of X- and Y-chromosomes in smears and paraffin-embedded tissues using a non-isotopic in situ hybridization technique (NISH). Int J Legal Med. 1994;107(2):108–110. doi: 10.1007/BF01225497. [DOI] [PubMed] [Google Scholar]
- Gubbay J., Collignon J., Koopman P., Capel B., Economou A., Münsterberg A., Vivian N., Goodfellow P., Lovell-Badge R. A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Nature. 1990 Jul 19;346(6281):245–250. doi: 10.1038/346245a0. [DOI] [PubMed] [Google Scholar]
- Kogan S. C., Doherty M., Gitschier J. An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A. N Engl J Med. 1987 Oct 15;317(16):985–990. doi: 10.1056/NEJM198710153171603. [DOI] [PubMed] [Google Scholar]
- Koopman P., Gubbay J., Vivian N., Goodfellow P., Lovell-Badge R. Male development of chromosomally female mice transgenic for Sry. Nature. 1991 May 9;351(6322):117–121. doi: 10.1038/351117a0. [DOI] [PubMed] [Google Scholar]
- 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]
- Mori C., Shiota K. Sexing of human embryos and fetuses by fluorescent in situ hybridization (FISH) to paraffin-embedded tissues with sex chromosome-specific DNA probes. Am J Med Genet. 1994 Apr 1;50(2):180–186. doi: 10.1002/ajmg.1320500209. [DOI] [PubMed] [Google Scholar]
- Nakahori Y., Mitani K., Yamada M., Nakagome Y. A human Y-chromosome specific repeated DNA family (DYZ1) consists of a tandem array of pentanucleotides. Nucleic Acids Res. 1986 Oct 10;14(19):7569–7580. doi: 10.1093/nar/14.19.7569. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Serrat A., García de Herreros A. Determination of genetic sex by PCR amplification of Y-chromosome-specific sequences. Lancet. 1993 Jun 19;341(8860):1593–1593. doi: 10.1016/0140-6736(93)90728-y. [DOI] [PubMed] [Google Scholar]
- Simpson J. L., Ljungqvist A., de la Chapelle A., Ferguson-Smith M. A., Genel M., Carlson A. S., Ehrhardt A. A., Ferris E. Gender verification in competitive sports. Sports Med. 1993 Nov;16(5):305–315. doi: 10.2165/00007256-199316050-00002. [DOI] [PubMed] [Google Scholar]