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Multilocus analysis of the fragile X syndrome

✍ Scribed by 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

Publisher
Springer
Year
1988
Tongue
English
Weight
477 KB
Volume
78
Category
Article
ISSN
0340-6717

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✦ Synopsis

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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