GENE FOR SIMPSON-GOLABI-BEHMEL SYNDROME IS LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES

Linkage analysis was performed in 2 previously described European fami lies 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-Canadia n kindred with SGB syndrome. Compiled lod scores from the 3 families r each their maximum of 11.95 at recombination fraction of 0.00 with one lod unit support interval of 0.00-0.04.