Multilocus analysis of the fragile X syndrome

W. T. Brown; A. Gross; C. Chan; E. C. Jenkins; J. L. Mandel; I. Oberlé; B. Arveiler; G. Novelli; S. Thibodeau; R. Hagerman; K. Summers; G. Turner; B. N. White; L. Mulligan; C. Forster-Gibson; J. J.A. Holden; B. Zoll; M. Krawczak; P. Goonewardena; K. H. Gustavson; U. Pettersson; G. Holmgren; C. Schwartz; P. N. Howard-Peebles; P. Murphy; W. R. Breg; H. Veenema; N. J. Carpenter

doi:10.1007/BF00291662

Multilocus analysis of the fragile X syndrome

W. T. Brown, A. Gross, C. Chan, E. C. Jenkins, J. L. Mandel, I. Oberlé, B. Arveiler, G. Novelli, S. Thibodeau, R. Hagerman, K. Summers, G. Turner, B. N. White, L. Mulligan, C. Forster-Gibson, J. J.A. Holden, B. Zoll, M. Krawczak, P. Goonewardena, K. H. GustavsonU. Pettersson, G. Holmgren, C. Schwartz, P. N. Howard-Peebles, P. Murphy, W. R. Breg, H. Veenema, N. J. Carpenter

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

24 Scopus citations

Abstract

A multilocus analysis of the fragile X (fra(X)) syndrome was conducted with 147 families. Two proximal loci, DXS51 and F9, and two distal loci, DXS52 and DXS15, were studied. Overall, the best multipoint distances were found to be DXS51-F9, 6.9%, F9-fra(X), 22.4%; fra(X)-DXS52, 12.7%; DXS52-DXS15, 2.2%. These distances can be used for multipoint mapping of new probes, carrier testing and counseling of fra(X) families. Consistent with several previous studies, the families as a whole showed genetic heterogeneity for linkage between F9 and fra(X).

Original language	English (US)
Pages (from-to)	201-205
Number of pages	5
Journal	Human genetics
Volume	78
Issue number	3
DOIs	https://doi.org/10.1007/BF00291662
State	Published - Mar 1988

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Brown, W. T., Gross, A., Chan, C., Jenkins, E. C., Mandel, J. L., Oberlé, I., Arveiler, B., Novelli, G., Thibodeau, S., Hagerman, R., Summers, K., Turner, G., White, B. N., Mulligan, L., Forster-Gibson, C., Holden, J. J. A., Zoll, B., Krawczak, M., Goonewardena, P., ... Carpenter, N. J. (1988). Multilocus analysis of the fragile X syndrome. Human genetics, 78(3), 201-205. https://doi.org/10.1007/BF00291662

Brown, WT, Gross, A, Chan, C, Jenkins, EC, Mandel, JL, Oberlé, I, Arveiler, B, Novelli, G, Thibodeau, S, Hagerman, R, Summers, K, Turner, G, White, BN, Mulligan, L, Forster-Gibson, C, Holden, JJA, Zoll, B, Krawczak, M, Goonewardena, P, Gustavson, KH, Pettersson, U, Holmgren, G, Schwartz, C, Howard-Peebles, PN, Murphy, P, Breg, WR, Veenema, H & Carpenter, NJ 1988, 'Multilocus analysis of the fragile X syndrome', Human genetics, vol. 78, no. 3, pp. 201-205. https://doi.org/10.1007/BF00291662

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title = "Multilocus analysis of the fragile X syndrome",

abstract = "A multilocus analysis of the fragile X (fra(X)) syndrome was conducted with 147 families. Two proximal loci, DXS51 and F9, and two distal loci, DXS52 and DXS15, were studied. Overall, the best multipoint distances were found to be DXS51-F9, 6.9%, F9-fra(X), 22.4%; fra(X)-DXS52, 12.7%; DXS52-DXS15, 2.2%. These distances can be used for multipoint mapping of new probes, carrier testing and counseling of fra(X) families. Consistent with several previous studies, the families as a whole showed genetic heterogeneity for linkage between F9 and fra(X).",

author = "Brown, {W. T.} and A. Gross and C. Chan and Jenkins, {E. C.} and Mandel, {J. L.} and I. Oberl{\'e} and B. Arveiler and G. Novelli and S. Thibodeau and R. Hagerman and K. Summers and G. Turner and White, {B. N.} and L. Mulligan and C. Forster-Gibson and Holden, {J. J.A.} and B. Zoll and M. Krawczak and P. Goonewardena and Gustavson, {K. H.} and U. Pettersson and G. Holmgren and C. Schwartz and Howard-Peebles, {P. N.} and P. Murphy and Breg, {W. R.} and H. Veenema and Carpenter, {N. J.}",

year = "1988",

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AU - Brown, W. T.

AU - Gross, A.

AU - Chan, C.

AU - Jenkins, E. C.

AU - Mandel, J. L.

AU - Oberlé, I.

AU - Arveiler, B.

AU - Novelli, G.

AU - Thibodeau, S.

AU - Hagerman, R.

AU - Summers, K.

AU - Turner, G.

AU - White, B. N.

AU - Mulligan, L.

AU - Forster-Gibson, C.

AU - Holden, J. J.A.

AU - Zoll, B.

AU - Krawczak, M.

AU - Goonewardena, P.

AU - Gustavson, K. H.

AU - Pettersson, U.

AU - Holmgren, G.

AU - Schwartz, C.

AU - Howard-Peebles, P. N.

AU - Murphy, P.

AU - Breg, W. R.

AU - Veenema, H.

AU - Carpenter, N. J.

PY - 1988/3

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N2 - A multilocus analysis of the fragile X (fra(X)) syndrome was conducted with 147 families. Two proximal loci, DXS51 and F9, and two distal loci, DXS52 and DXS15, were studied. Overall, the best multipoint distances were found to be DXS51-F9, 6.9%, F9-fra(X), 22.4%; fra(X)-DXS52, 12.7%; DXS52-DXS15, 2.2%. These distances can be used for multipoint mapping of new probes, carrier testing and counseling of fra(X) families. Consistent with several previous studies, the families as a whole showed genetic heterogeneity for linkage between F9 and fra(X).

AB - A multilocus analysis of the fragile X (fra(X)) syndrome was conducted with 147 families. Two proximal loci, DXS51 and F9, and two distal loci, DXS52 and DXS15, were studied. Overall, the best multipoint distances were found to be DXS51-F9, 6.9%, F9-fra(X), 22.4%; fra(X)-DXS52, 12.7%; DXS52-DXS15, 2.2%. These distances can be used for multipoint mapping of new probes, carrier testing and counseling of fra(X) families. Consistent with several previous studies, the families as a whole showed genetic heterogeneity for linkage between F9 and fra(X).

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Multilocus analysis of the fragile X syndrome

Abstract

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