RT Journal Article
T1 Founding mutations explains hotspots of polycystic kidney disease in Southern Spain.
A1 García Rabaneda, Carmen
A1 Perea, Francisco
A1 Bellido Díaz, María Luz
A1 Morales García, Ana I
A1 Martínez Atienza, Margarita
A1 Sousa Silva, Lisbeth
A1 González, Miguel Ángel García
A1 Ruiz-Cabello, Francisco
A1 Esteban de la Rosa, Rafael J
K1 ADPKD
K1 Southern Spain
K1 common ancestor
K1 disease-associated haplotype
K1 founding mutation
K1 hotspots
AB 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.
SN 2048-8505
YR 2020
FD 2020-12-10
LK https://hdl.handle.net/10668/26228
UL https://hdl.handle.net/10668/26228
LA en
DS RISalud
RD Apr 5, 2025