ArticleAmerican journal of human genetics1995
Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
7 citing papers in PubMed, 40 citations in OpenAlex.
- Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease.Clinical journal of the American Society of Nephrology : CJASN · 2009Article
- PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.BMC medical genetics · 2006Article
- Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.Journal of molecular medicine (Berlin, Germany) · 2005Article
- Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.American journal of human genetics · 2001Article
- Neurology and the kidney.Journal of neurology, neurosurgery, and psychiatry · 1998Review
- Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina.Journal of medical genetics · 1997Article
- Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis.The Journal of clinical investigation · 1997Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder. At least two distinct forms of ADPKD are now well defined. In approximately 86% of affected European families, a gene defect localized to 16p13.3 was responsible for ADPKD, while a second locus has been recently localized to 4q13-q23 as candidate for the disease in the remaining families. We present confirmation of linkage to microsatellite markers on chromosome 4q in eight Spanish families with ADPKD, in which the disease was not linked to 16p13.3. By linkage analysis with marker D4S423, a maximum lod score of 9.03 at a recombination fraction of .00 was obtained. Multipoint linkage analysis, as well as a study of recombinant haplotypes, placed the PKD2 locus between D4S1542 and D4S1563, thereby defining a genetic interval of approximately 1 cM. The refined map will serve as a genetic framework for additional genetic and physical mapping of the region and will improve the accuracy of presymptomatic diagnosis of PKD2.
Indexed as
Identifiers
7825585PMC1801339W2154171598What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.