%0 Journal Article
%A García Rabaneda, Carmen
%A Perea, Francisco
%A Bellido Díaz, María Luz
%A Morales García, Ana I
%A Martínez Atienza, Margarita
%A Sousa Silva, Lisbeth
%A González, Miguel Ángel García
%A Ruiz-Cabello, Francisco
%A Esteban de la Rosa, Rafael J
%T Founding mutations explains hotspots of polycystic kidney disease in Southern Spain.
%D 2020
%@ 2048-8505
%U https://hdl.handle.net/10668/26228
%X 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 autosomal dominant polycystic kidney disease (ADPKD) individuals affected. To determine a common ancestor, healthy and ADPKD individuals from these families were genotyped by analysing 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 explain why there is a high frequency of ADPKD in small regions. Determining hotspots of ADPKD will help to better plan healthcare in the future.
%K ADPKD
%K Southern Spain
%K common ancestor
%K disease-associated haplotype
%K founding mutation
%K hotspots
%~