Close genetic linkage between HLA and renal glycosuria

Sergio De Marchi, Emanuela Cecchin, Antonio Basile, Giovanni Proto, Walter Donadon, Aldo Jengo, Domenico Schinella, Antonio Jus, Danilo Villalta, Paolo De Paoli, Gianfranco Santini, Franco Tesio

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)280-286
Number of pages7
JournalAmerican Journal of Nephrology
Volume4
Issue number5
Publication statusPublished - 1984

Keywords

  • HLA-linked diseases
  • Major histocompatibility complex
  • Renal glycosuria

ASJC Scopus subject areas

  • Nephrology

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    De Marchi, S., Cecchin, E., Basile, A., Proto, G., Donadon, W., Jengo, A., Schinella, D., Jus, A., Villalta, D., De Paoli, P., Santini, G., & Tesio, F. (1984). Close genetic linkage between HLA and renal glycosuria. American Journal of Nephrology, 4(5), 280-286.