AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE - EVIDENCE FOR THE EXISTENCE OF A 3RD LOCUS IN A PORTUGUESE FAMILY

Authors
DEALMEIDA S DEALMEIDA E PETERS D PINTO JR TAVORA I LAVINHA J BREUNING M PRATA MM
Citation
S. Dealmeida et al., AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE - EVIDENCE FOR THE EXISTENCE OF A 3RD LOCUS IN A PORTUGUESE FAMILY, Human genetics, 96(1), 1995, pp. 83-88
Citations number
27
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
96
Issue
1
Year of publication
1995
Pages
83 - 88
Database
ISI
SICI code
0340-6717(1995)96:1<83:APK-EF>2.0.ZU;2-X
Abstract
Autosomal dominant polycystic kidney disease is characterized by clini cal 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 l arge Portuguese family, indicating that a third PKD locus is involved in the development of the disease.