Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome

M. N. Patterson, M. V. Bell, J. Bloomfield, T. Flint, H. Dorkins, Stephen N Thibodeau, Daniel J Schaid, G. Bren, C. E. Schwartz, b. Wieringa, H. H. Ropers, D. F. Callen, G. Sutherland, U. Froster-Iskenius, H. Vissing, K. E. Davies

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Abstract

We report the isolation and characterization of a novel DNA marker (1A1) in Xqter in the region of the fragile X. Genetic studies in families segregating for the fragile X syndrome suggest that 1A1 lies between the disease mutation and the distal locus, DXS52. Studies in normal and fragile X families show that 1A1 is tightly linked to DXS52 (Zmax = 17.20; θmax = 0.03) and F8 (Zmax = 7.01; θmax = 0.08). Multipoint mapping of families supports the order Xcen-DXS105-FRAXA-1A1-DXS52-(F8, DXS115)-Xqter. Pulsed-field gel electrophoresis (PFGE) studies demonstrate that 1A1 defines a new region of at least 2 Mb of DNA not physically linked to DXS52 or F8, thus extending the physical map of Xq27-qter to over 4 Mb. Complex partial digestion PFGE patterns, probably due to differing degrees of methylation, are observed with 1A1 in unrelated normal and fragile-X-positive individuals, whereas other distal markers give uniform digestion profiles. Physical data suggest that 1A1 lies in a region less CpG rich than other distal markers in Xq27-qter.

Original languageEnglish (US)
Pages (from-to)570-578
Number of pages9
JournalGenomics
Volume4
Issue number4
DOIs
StatePublished - 1989

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ASJC Scopus subject areas

  • Genetics

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Patterson, M. N., Bell, M. V., Bloomfield, J., Flint, T., Dorkins, H., Thibodeau, S. N., Schaid, D. J., Bren, G., Schwartz, C. E., Wieringa, B., Ropers, H. H., Callen, D. F., Sutherland, G., Froster-Iskenius, U., Vissing, H., & Davies, K. E. (1989). Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome. Genomics, 4(4), 570-578. https://doi.org/10.1016/0888-7543(89)90281-4