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

Autosomal dominant polycystic kidney disease (ADPKD) is caused by at least two different genes. The ADPKD1 gene is located on chromosome 16p and a second locus is at 4q. Although the ADPKD1 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 beta-hemoglobin gene on chromosome 11. The ADPKD in this family was linked to markers on chromosome 16, and no linkage was found with the beta-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.