Genetic studies in a black family with autosomal dominant polycystic kidney disease and sickle-cell trait

William J. Kimberling, Jackson Joe Yium, Ann M. Johnson, Patricia A. Gabow, Manuel Martinez-Maldonado

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is caused by at least two different genes. The ADPKD 1 gene is located on chromosome 16p and a second locus is at 4q. Although the ADPKD 1 gene is responsible for the majority of the disease in whites, there was no information regarding the gene type in blacks. We studied a black family which presented with both ADPKD and sickle-cell trait (SA) to determine which ADPKD gene was present in this family, and to examine linkage between the ADPKD in this family and markers for the β-hemoglobin gene on chromosome 11. The ADPKD in this family was linked to markers on chromosome 16, and no linkage was found with the β-hemoglobin gene. Family members with SA and ADPKD had an early onset of end-stage renal disease. The hemoglobin haplotype was identified as the Central African Republic-type, which has been reported to be associated with a higher incidence of renal failure in sickle-cell anemia.

Original languageEnglish (US)
Pages (from-to)595-598
Number of pages4
JournalNephron
Volume72
Issue number4
DOIs
StatePublished - 1996

Keywords

  • Autosomal dominant polycystic kidney disease
  • End-stage renal disease in blacks
  • Sickle-cell trait

ASJC Scopus subject areas

  • Physiology
  • Nephrology
  • Physiology (medical)
  • Urology

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    Kimberling, W. J., Yium, J. J., Johnson, A. M., Gabow, P. A., & Martinez-Maldonado, M. (1996). Genetic studies in a black family with autosomal dominant polycystic kidney disease and sickle-cell trait. Nephron, 72(4), 595-598. https://doi.org/10.1159/000188945