Abstract
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.
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1 Servicio de Análisis Clínicos, Hospital Universitario San Cecilio, Granada, Spain; Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante (GEEPAD), Granada, Spain
2 Servicio de Análisis Clínicos e Inmunología, UGC Laboratorio Clínico, Granada, Spain; Servicio de Análisis Clínicos e Inmunología, UGC Laboratorio ClÍnico, Granada, Spain
3 Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante (GEEPAD), Granada, Spain; Servicio de Análisis Clínicos e Inmunología, UGC Laboratorio Clínico, Granada, Spain; Servicio de Análisis Clínicos e Inmunología, UGC Laboratorio ClÍnico, Granada, Spain
4 Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante (GEEPAD), Granada, Spain; Servicio de Nefrología, Hospital Universitario San Cecilio, Granada, Spain; Instituto de Investigación Biosanitario de Granada (IBS.GRANADA), Granada, Spain
5 Laboratorio de Genética del Complejo Hospitalario Universitario de Santiago de Compostela (NEFROCHUS) Spain
6 Servicio de Análisis Clínicos e Inmunología, UGC Laboratorio Clínico, Granada, Spain
7 Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante (GEEPAD), Granada, Spain; Instituto de Investigación Biosanitario de Granada (IBS.GRANADA), Granada, Spain; Servicio de Nefrología, Hospital Universitario Virgen de las Nieves, Granada, Spain; Asociación Amigos del Riñón, Granada, Spain