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Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family |
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| Authors: | Salomé de Almeida Edgar de Almeida Dorien Peters José Reimão Pinto Isabel Távora João Lavinha Martjn Breuning Mateus Martins Prata |
| Affiliation: | (1) Departamento de Genética Humana, Instituto Nacional de Saúde, Dr Ricardo Jorge Ave. Padre Cruz, P-1699 Lisboa Codex, Portugal;(2) Serviço de Nefrologia, Hospital de Sta Maria, Lisboa, Portugal;(3) Department of Human Genetics, Sylvius Laboratory Leiden University, Leiden, The Netherlands |
| Abstract: | Autosomal dominant polycystic kidney disease is characterized by clinical and genetic heterogeneity. Two loci implicated in the disease have previously been mapped (PKD1 on chromosome 16 and PKD2 on chromosome 4). By two point and multipoint linkage analysis, negative lod scores have been found for both chromosome 16 and chromosome 4 markers in a large Portuguese family, indicating that a third PKD locus is involved in the development of the disease. |
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