Summary
A 4.6 kb long, Y-specific DNA fragment was isolated from a flow-sorted human Y chromosomal library, and its male specificity was confirmed by Southern blot analysis. The fragment, designated as pY-80, was proven with anin situ hybridization experiment to have originated from the Yp11.2-Ypter region. Its 2,808 bp section was sequenced. The polymerase chain reaction proceeded with oligonucleotides flanking a 666 bpPstI-EcoRI fragment of the sequence as primers and a male genomic DNA as a template, but not with a female genomic DNA. Preliminary tests of samples of various sources successfully detected the Y-specific fragment in male-derived samples, including mouth wash, single hair roots, urinary epithelial cells, dried blood spots and amniotic fluid cells.
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Arnemann, J., Eppen, J.T., Cooke, H.J., Sauermann, U., Engel, W. and Schmidtke, J. 1987. A human Y-chromosomal DNA sequence expressed in testicular tissue.Nucleic Acids Res. 15: 8713–8724.
Cooke, H.J., Brown, W.A.R. and Rappold, G.A. 1984. Closely related sequences on human X and Y chromosomes outside the pairing region.Nature 311: 259–261.
Ellis, N.A., Goodfellow, P.J., Pym, B., Smith, M., Palmer, M., Frischauf, A.-M. and Goodfellow, P.N. 1989. The pseudoautosomal boundary in man is defined by anAlu repeat sequence inserted on the Y chromosome.Nature 337: 81–84.
Nakahori, Y., Mitani, K., Yamada, M. and Nakagome, Y. 1986. A human Y-chromosome specific repeated DNA family (DYZ1) consists of a tandem array of pentanucleotides.Nucleic Acids Res. 14: 7569–7580.
Sinclair, A.H., Berta, P., Palmer, M.S., Hawkins, J.R., Griffiths, B.L., Smith, M.J., Foster, J.W., Frischauf, A.-M., Lovell-Badge, R. and Goodfellow, P.N. 1990. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif.Nature 346: 240–244.
Tsukahara, M. and Kajii, T. 1985. Replication of X chromosomes in complete moles.Hum. Genet. 71: 7–10.
Wyman, A.R. and White, R. 1980. A highly polymorphic locus in human DNA.Proc. Natl. Acad. Sci. U.S.A. 77: 6754–6758.
Zabel, B.U., Naylor, S.L., Sakaguchi, A.Y., Bell, G.I. and Shows, T.B. 1983. High-resolution chromosomal localization of human genes for amylase, proopiomelanocortin, somatostatin, and a DNA fragment (D3S1) byin situ hybridization.Proc. Natl. Acad. Sci. U.S.A. 80: 6932–6936.
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Tsukahara, M., Matsuura, S., Kishi, F. et al. Isolation of A Y chromosomal DNA sequence and its clinical application. Jap J Human Genet 35, 331–339 (1990). https://doi.org/10.1007/BF01883756
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DOI: https://doi.org/10.1007/BF01883756
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