ArticleAmerican journal of human genetics1994
Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 56 citations in OpenAlex.
- Renal transplantation in autosomal dominant polycystic kidney disease.Nature reviews. Nephrology · 2014Review
- Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.Kidney international · 2014Article
- Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.Journal of the American Society of Nephrology : JASN · 2010Article
- Molecular diagnostics for autosomal dominant polycystic kidney disease.Nature reviews. Nephrology · 2010Review
- Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.Kidney international · 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
- Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.American journal of human genetics · 2001Article
- Complete inactivation of the TSC2 gene leads to formation of hamartomas.American journal of human genetics · 1999Article
- Isolated polycystic liver disease not linked to polycystic kidney disease 1 and 2.Digestive diseases and sciences · 1999Article
- Mutation detection in the repeated part of the PKD1 gene.American journal of human genetics · 1997Article
- Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina.Journal of medical genetics · 1997Article
- A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes.Journal of medical genetics · 1997Article
- Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.American journal of human genetics · 1997Article
- Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.American journal of human genetics · 1996Article
- DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2: evaluation of clinical heterogeneity between both forms of the disease.Journal of medical genetics · 1995Article
- Haplotype analysis in autosomal dominant polycystic kidney disease.Journal of medical genetics · 1995Article
- Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2.American journal of human genetics · 1995Article
- Genetic analysis of Cuban autosomal dominant polycystic kidney disease kindreds using RFLPs and microsatellite polymorphisms linked to the PKD1 locus.Human genetics · 1994Article
- Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1).American journal of human genetics · 1994Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Forty-one Spanish families with polycystic kidney disease 1 (PKD1) were studied for evidence of linkage disequilibrium between the disease locus and six closely linked markers. Four of these loci--three highly polymorphic microsatellites (SM6, CW3, and CW2) and an RFLP marker (BLu24)--are described for the first time in this report. Overall the results reveal many different haplotypes on the disease-carrying chromosome, suggesting a variety of independent PKD1 mutations. However, linkage disequilibrium was found between BLu24 and PKD1, and this was corroborated by haplotype analysis including the microsatellite polymorphisms. From this analysis a group of closely related haplotypes, consisting of four markers, was found on 40% of PKD1 chromosomes, although markers flanking this homogeneous region showed greater variability. This study has highlighted an interesting subpopulation of Spanish PKD1 chromosomes, many of which have a common origin, that may be useful for localizing the PKD1 locus more precisely.
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7909986PMC1918265W1539311230What 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.