ArticleAmerican journal of human genetics1999
Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 112 citations in OpenAlex.
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- Identification of Monogenic Causes of Arterial Ischemic Stroke in Children with Arteriopathies by Next-Generation Sequencing.International journal of molecular sciences · 2025Article
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- Analyzing PKC Gamma (+ 19,506 A/G) polymorphism as a promising genetic marker for HCV-induced hepatocellular carcinoma.Biomarker research · 2022Article
- Insilico prediction and functional analysis of nonsynonymous SNPs in human CTLA4 gene.Scientific reports · 2022Article
- The investigation of nonsynonymous SNPs of humanHeliyon · 2021Article
- Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease.BMC nephrology · 2020Article
- Identification and in silico analysis of functional SNPs of human TAGAP protein: A comprehensive study.PloS one · 2018Article
- Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene.Journal of clinical laboratory analysis · 2016Article
- Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.Journal of the American Society of Nephrology : JASN · 2016Article
- Analysis of consequences of non-synonymous SNP in feed conversion ratio associated TGF-β receptor type 3 gene in chicken.Meta gene · 2015Article
- Correlations between long inverted repeat (LIR) features, deletion size and distance from breakpoint in human gross gene deletions.Scientific reports · 2015Article
- Functional and Structural Consequences of Damaging Single Nucleotide Polymorphisms in Human Prostate Cancer Predisposition Gene RNASEL.BioMed research international · 2015Article
- Next-generation sequencing for research and diagnostics in kidney disease.Nature reviews. Nephrology · 2014Review
- Evaluation and identification of damaged single nucleotide polymorphisms in COL1A1 gene involved in osteoporosis.Archives of medical science : AMS · 2013Article
- Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer's Disease.Neurology research international · 2012Article
- Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.BMC medical genetics · 2011Article
- High Resolution Melt analysis for mutation screening in PKD1 and PKD2.BMC nephrology · 2011Article
- Naturally occurring mutations alter the stability of polycystin-1 polycystic kidney disease (PKD) domains.The Journal of biological chemistry · 2009Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
We have used long-range PCR to identify mutations in the duplicated part of the PKD1 gene. By means of a PKD1-specific primer in intron 1, an approximately 13.6-kb PCR product that includes exons 2-15 of the PKD1 gene has been used to search for mutations, by direct sequence analysis. This region contains the majority of the predicted extracellular domains of the PKD1-gene product, polycystin, including the 16 novel PKD domains that have similarity to immunoglobulin-like domains found in many cell-adhesion molecules and cell-surface receptors. Direct sequence analysis of exons encoding all the 16 PKD domains was performed on PCR products from a group of 24 unrelated patients with autosomal dominant polycystic kidney disease (ADPKD [MIM 173900]). Seven novel mutations were found in a screening of 42% of the PKD1-coding region in each patient, representing a 29% detection rate; these mutations included two deletions (one of 3 kb and the other of 28 bp), one single-base insertion, and four nucleotide substitutions (one splice site, one nonsense, and two missense). Five of these mutations would be predicted to cause a prematurely truncated protein. Two coding and 18 silent polymorphisms were also found. When, for the PKD1 gene, this method is coupled with existing mutation-detection methods, virtually the whole of this large, complex gene can now be screened for mutations.
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