title: Close genetic linkage between HLA and renal glycosuria.
abstract: Renal glycosuria is an inherited disorder of renal tubule function in which significant amounts of glucose are excreted in the urine in the simultaneous presence of normal blood glucose levels. Renal glucose titration analyses and HLA genotypes were performed in 5 unrelated affected families with a total of 25 patients and 40 healthy relatives. In each family the gene responsible for renal glycosuria segregates with the HLA complex suggesting a close genetic linkage. 2 cases carry intra-HLA recombinant haplotypes; in these subjects our findings indicate that the abnormal gene is closer to the HLA-A locus than the HLA-B locus. No HLA-A, HLA-B or HLA-C specific antigen is selectively increased among the 5 unrelated families affected with renal glycosuria.
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005838:Genotype; D005947:Glucose / Q000032:analysis; D006029:Glycosuria; D006030:Glycosuria, Renal / Q000235:genetics*; D006680:HLA Antigens / Q000235:genetics*; D006650:Histocompatibility Testing; D006801:Humans; D007668:Kidney / Q000032:analysis; D008297:Male; D008875:Middle Aged; D010375:Pedigree
chemical_list: D006680:HLA Antigens; D005947:Glucose