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Science 2 October 1992:
Vol. 258. no. 5079, pp. 52 - 59
DOI: 10.1126/science.1439769

Articles

Science, Vol 258, Issue 5079, 52-59
Copyright © 1992 by American Association for the Advancement of Science


articles

The human Y chromosome: a 43-interval map based on naturally occurring deletions

D Vollrath, S Foote, A Hilton, LG Brown, P Beer-Romero, JS Bogan, and DC Page

Howard Hughes Research Laboratories, Whitehead Institute, Cambridge, MA.

A deletion map of the human Y chromosome was constructed by testing 96 individuals with partial Y chromosomes for the presence or absence of many DNA loci. The individuals studied included XX males, XY females, and persons in whom chromosome banding had revealed translocated, deleted, isodicentric, or ring Y chromosomes. Most of the 132 Y chromosomal loci mapped were sequence-tagged sites, detected by means of the polymerase chain reaction. These studies resolved the euchromatic region (short arm, centromere, and proximal long arm) of the Y chromosome into 43 ordered intervals, all defined by naturally occurring chromosomal breakpoints and averaging less than 800 kilobases in length. This deletion map should be useful in identifying Y chromosomal genes, in exploring the origin of chromosomal disorders, and in tracing the evolution of the Y chromosome.


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   Abstract »    Full Text »    PDF »
Evolutionary Features of the 4-Mb Xq21.3 XY Homology Region Revealed by a Map at 60-kb Resolution.
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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G G Bouffard, L M Iyer, J R Idol, V V Braden, A F Cunningham, L A Weintraub, R M Mohr-Tidwell, D C Peluso, R S Fulton, M P Leckie, et al. (1997)
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   Abstract »    PDF »
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K Taylor, N Hornigold, D Conway, D Williams, Z Ulinowski, M Agochiya, P Fattorini, P de Jong, P F Little, and J Wolfe (1996)
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   Abstract »    PDF »
A Combined Cytogenetic and Molecular Approach for Diagnosing Delayed Puberty.
Hon Fong Louie Mark, J. K. Bayleran, D. B. Seifer, and C. H. Meyers-Seifer (1996)
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   Abstract »    PDF »
Detection of Y-Chromosome Sequences in Gonadal Tissue of Patients with Turner's Syndrome (45,X).
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   Abstract »    PDF »
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   Abstract »    Full Text »    PDF »



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