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; S. N. Thibodeau; D. Schaid; G. Bren; C. E. Schwartz; b. Wieringa; H. H. Ropers; D. F. Callen; G. Sutherland; U. Froster-Iskenius; H. Vissing; K. E. Davies

doi:10.1016/0888-7543(89)90281-4

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, S. N. Thibodeau, D. 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 (Z_max = 17.20; θ_max = 0.03) and F8 (Z_max = 7.01; θ_max = 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 language	English (US)
Pages (from-to)	570-578
Number of pages	9
Journal	Genomics
Volume	4
Issue number	4
DOIs	https://doi.org/10.1016/0888-7543(89)90281-4
State	Published - May 1989

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., 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

Patterson, MN, Bell, MV, Bloomfield, J, Flint, T, Dorkins, H, Thibodeau, SN , Schaid, D, Bren, G, Schwartz, CE, Wieringa, B, Ropers, HH, Callen, DF, Sutherland, G, Froster-Iskenius, U, Vissing, H & Davies, KE 1989, 'Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome', Genomics, vol. 4, no. 4, pp. 570-578. https://doi.org/10.1016/0888-7543(89)90281-4

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

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.",

author = "Patterson, {M. N.} and Bell, {M. V.} and J. Bloomfield and T. Flint and H. Dorkins and Thibodeau, {S. N.} and D. Schaid and G. Bren and Schwartz, {C. E.} and b. Wieringa and Ropers, {H. H.} and Callen, {D. F.} and G. Sutherland and U. Froster-Iskenius and H. Vissing and Davies, {K. E.}",

note = "Funding Information: with tissue culture, Dr. Bill Cookson for advice on computing, and Helen Blaber for typing the manuscript. We are grateful to the Medical Research Council of Great Britain for financial support.",

year = "1989",

month = may,

doi = "10.1016/0888-7543(89)90281-4",

language = "English (US)",

volume = "4",

pages = "570--578",

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T1 - Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome

AU - Patterson, M. N.

AU - Bell, M. V.

AU - Bloomfield, J.

AU - Flint, T.

AU - Dorkins, H.

AU - Thibodeau, S. N.

AU - Schaid, D.

AU - Bren, G.

AU - Schwartz, C. E.

AU - Wieringa, b.

AU - Ropers, H. H.

AU - Callen, D. F.

AU - Sutherland, G.

AU - Froster-Iskenius, U.

AU - Vissing, H.

AU - Davies, K. E.

N1 - Funding Information: with tissue culture, Dr. Bill Cookson for advice on computing, and Helen Blaber for typing the manuscript. We are grateful to the Medical Research Council of Great Britain for financial support.

PY - 1989/5

Y1 - 1989/5

N2 - 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.

AB - 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.

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ER -

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

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