title: Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families.
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.
authors.affiliation: Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
authors.forename: U
authors.initials: U
authors.lastname: Orth
authors.forename: F
authors.initials: F
authors.lastname: Gurrieri
authors.forename: A
authors.initials: A
authors.lastname: Behmel
authors.forename: M
authors.initials: M
authors.lastname: Genuardi
authors.forename: M
authors.initials: M
authors.lastname: Cremer
authors.forename: A
authors.initials: A
authors.lastname: Gal
authors.forename: G
authors.initials: G
authors.lastname: Neri
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D005877:Gigantism / Q000235:genetics*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D008126:Lod Score; D008297:Male; D009765:Obesity / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D013577:Syndrome; D014960:X Chromosome
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase