Linkage analysis was performed in 2 previously described European families segregating for the Simpson-Golabi-Behmel (SGB) syndrome. In both kindreds close linkage without recombination (zmax = 4.45 at theta = 0.00) was observed between the disease locus and the HPRT locus mapped in Xq26. These data are very similar to those (zmax = 7.5 at theta = 0.00) reported recently by others after studying a large Dutch-Canadian kindred with SGB syndrome. Compiled lod scores from the 3 families reach their maximum of 11.95 at recombination fraction of 0.00 with one lod unit support interval of 0.00-0.04.
Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families / U. Orth;F. Gurrieri;A. Behmel;M. Genuardi;M. Cremer;A. Gal;G. Neri. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. - ISSN 0148-7299. - STAMPA. - 50:(1994), pp. 388-390. [10.1002/ajmg.1320500423]
Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families.
GENUARDI, MAURIZIO;
1994
Abstract
Linkage analysis was performed in 2 previously described European families segregating for the Simpson-Golabi-Behmel (SGB) syndrome. In both kindreds close linkage without recombination (zmax = 4.45 at theta = 0.00) was observed between the disease locus and the HPRT locus mapped in Xq26. These data are very similar to those (zmax = 7.5 at theta = 0.00) reported recently by others after studying a large Dutch-Canadian kindred with SGB syndrome. Compiled lod scores from the 3 families reach their maximum of 11.95 at recombination fraction of 0.00 with one lod unit support interval of 0.00-0.04.
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