Our group identified two pathogenic variants on the PKD1 gene, c.10527_10528delGA and c.7292T>A from unrelated families. They came from two small counties in Granada, with 61 and 26 ADPKD individuals affected. To determine a common ancestor, healthy and ADPKD individuals from these families were genotyped by analyzing four microsatellites located on chromosome 16. Our study identified a common haplotype in all ADPKD individuals. These findings underpin our hypothesis of the founder effect and explains why there is a high frequency of ADPKD in small regions. Determining hot spots of ADPKD will help to better plan health care in the future.

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