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 Citations (Scopus)

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 - Jan 1 1996

Fingerprint

Sickle Cell Trait
Autosomal Dominant Polycystic Kidney
Genes
Hemoglobins
Central African Republic
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 11
Sickle Cell Anemia
Haplotypes
Chronic Kidney Failure
Renal Insufficiency
Chromosomes

Keywords

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

ASJC Scopus subject areas

  • Physiology
  • Nephrology
  • Urology
  • Physiology (medical)

Cite this

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

Genetic studies in a black family with autosomal dominant polycystic kidney disease and sickle-cell trait. / Kimberling, William J.; Yium, Jackson Joe; Johnson, Ann M.; Gabow, Patricia A.; Martinez-Maldonado, Manuel.

In: Nephron, Vol. 72, No. 4, 01.01.1996, p. 595-598.

Research output: Contribution to journalArticle

Kimberling, WJ, Yium, JJ, Johnson, AM, Gabow, PA & Martinez-Maldonado, M 1996, 'Genetic studies in a black family with autosomal dominant polycystic kidney disease and sickle-cell trait', Nephron, vol. 72, no. 4, pp. 595-598. https://doi.org/10.1159/000188945
Kimberling WJ, Yium JJ, Johnson AM, Gabow PA, Martinez-Maldonado M. Genetic studies in a black family with autosomal dominant polycystic kidney disease and sickle-cell trait. Nephron. 1996 Jan 1;72(4):595-598. https://doi.org/10.1159/000188945
Kimberling, William J. ; Yium, Jackson Joe ; Johnson, Ann M. ; Gabow, Patricia A. ; Martinez-Maldonado, Manuel. / Genetic studies in a black family with autosomal dominant polycystic kidney disease and sickle-cell trait. In: Nephron. 1996 ; Vol. 72, No. 4. pp. 595-598.
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