Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family
| Autor: | I. Tavora, Dorien J.M. Peters, Mateus Martins Prata, José Ricardo Pinto, João Lavinha, S. De Almeida, Martijn H. Breuning, E de Almeida |
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| Rok vydání: | 1995 |
| Předmět: |
Genetic Markers
Male Genetic Linkage Autosomal dominant polycystic kidney disease Locus (genetics) Biology Chromosome 16 Gene mapping Genetic linkage Genetics medicine Humans Genetics (clinical) Polycystic Kidney Diseases Portugal PKD1 urogenital system Genetic heterogeneity Chromosome Mapping medicine.disease Pedigree Chromosome 4 Female Chromosomes Human Pair 4 Lod Score Chromosomes Human Pair 16 |
| Zdroj: | Human Genetics. 96:83-88 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf00214191 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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