title: Assignment of human uroporphyrinogen I synthase locus to region 11qter by gene dosage effect.
abstract: Recently Meisler et al. (1980) reported the results of mouse/human somatic cell hybrid studies which indicated that the locus for human uroporphyrinogen I synthase (UPS) (EC 4.3.1.8) maps to chromosome 11. To evaluate further this assignment we have children with a trisomy of the region 11qter. We confirm the results of Meisler et al. (1980) and demonstrate that uroporphyrinogen I synthase activity is increased by a factor of 1.5 in trisomy 11qter. In erythrocytes of one child with a trisomy 11p, the expression of this enzyme was normal.
mesh_terms: D000328:Adult; D000642:Ammonia-Lyases / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005796:Genes; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D007223:Infant; D008297:Male; D014314:Trisomy
chemical_list: D011163:Hydroxymethylbilane Synthase; D000642:Ammonia-Lyases