dc.contributor.author | Bouba, I. | en |
dc.contributor.author | Koptides, Michael | en |
dc.contributor.author | Mean, R. | en |
dc.contributor.author | Costi, Constantina Eleni | en |
dc.contributor.author | Demetriou, Kyproula | en |
dc.contributor.author | Georgiou, Ioannis A. | en |
dc.contributor.author | Pierides, Alkis M. | en |
dc.contributor.author | Siamopoulos, K. | en |
dc.contributor.author | Constantinou-Deltas, Constantinos D. | en |
dc.creator | Bouba, I. | en |
dc.creator | Koptides, Michael | en |
dc.creator | Mean, R. | en |
dc.creator | Costi, Constantina Eleni | en |
dc.creator | Demetriou, Kyproula | en |
dc.creator | Georgiou, Ioannis A. | en |
dc.creator | Pierides, Alkis M. | en |
dc.creator | Siamopoulos, K. | en |
dc.creator | Constantinou-Deltas, Constantinos D. | en |
dc.date.accessioned | 2019-11-04T12:50:16Z | |
dc.date.available | 2019-11-04T12:50:16Z | |
dc.date.issued | 2001 | |
dc.identifier.issn | 1018-4813 | |
dc.identifier.uri | http://gnosis.library.ucy.ac.cy/handle/7/52957 | |
dc.description.abstract | The autosomal dominant form of polycystic kidney disease is a very frequent genetically heterogeneous inherited condition affecting approximately 1: 1000 individuals of the Caucasian population. The main symptom is the formation of fluid-filled cysts in the kidneys, which grow progressively in size and number with age, and leading to end-stage renal failure in approximately 50% of patients by age 60. About 85% of cases are caused by mutations in the PKD1 gene on chromosome 16p13.3, which encodes for polycystin-1, a membranous glycoprotein with 4302 amino acids and multiple domains. Mutation detection is still a challenge owing to various sequence characteristics that prevent easy PCR amplification and sequencing. Here we attempted a systematic screening of part of the duplicated region of the gene in a large cohort of 53 Hellenic families with the use of single-strand conformation polymorphism analysis of exons 16-34. Our analysis revealed eight most probably disease causing mutations, five deletions and three single amino acid substitutions, in the REJ domain of the protein. In one family, a 3-bp and an 8-bp deletion in exons 20 and 21 respectively, were co-inherited on the same PKD1 chromosome, causing disease in the mother and three sons. Interestingly we did not find any termination codon defects, so common in the unique part of the PKD1 gene. In the same cohort we identified 11 polymorphic sequence variants, four of which resulted in amino acid variations. This supports the notion that the PKD1 gene may be prone to mutagenesis, justifying the relatively high prevalence of polycystic kidney disease. | en |
dc.source | European Journal of Human Genetics | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0034804169&doi=10.1038%2fsj.ejhg.5200696&partnerID=40&md5=40d1cff333e8577af13d6df00ef9412a | |
dc.subject | age | en |
dc.subject | article | en |
dc.subject | human | en |
dc.subject | Humans | en |
dc.subject | controlled study | en |
dc.subject | female | en |
dc.subject | major clinical study | en |
dc.subject | priority journal | en |
dc.subject | kidney polycystic disease | en |
dc.subject | disease course | en |
dc.subject | male | en |
dc.subject | family | en |
dc.subject | amino acid sequence | en |
dc.subject | Caucasian | en |
dc.subject | DNA polymorphism | en |
dc.subject | genetic heterogeneity | en |
dc.subject | Polymorphism | en |
dc.subject | exon | en |
dc.subject | unclassified drug | en |
dc.subject | prevalence | en |
dc.subject | cohort analysis | en |
dc.subject | Base Sequence | en |
dc.subject | DNA | en |
dc.subject | gene mutation | en |
dc.subject | gene amplification | en |
dc.subject | polymerase chain reaction | en |
dc.subject | single strand conformation polymorphism | en |
dc.subject | Mutations | en |
dc.subject | symptom | en |
dc.subject | gene deletion | en |
dc.subject | genetic analysis | en |
dc.subject | Cohort Studies | en |
dc.subject | kidney failure | en |
dc.subject | screening | en |
dc.subject | codon | en |
dc.subject | membrane protein | en |
dc.subject | Variation (Genetics) | en |
dc.subject | DNA Mutational Analysis | en |
dc.subject | glycoprotein | en |
dc.subject | measurement | en |
dc.subject | Polymorphism, Genetic | en |
dc.subject | protein domain | en |
dc.subject | Sequence Homology, Amino Acid | en |
dc.subject | Sequence Deletion | en |
dc.subject | Proteins | en |
dc.subject | Pedigree | en |
dc.subject | amino acid substitution | en |
dc.subject | genetic code | en |
dc.subject | Polycystic Kidney, Autosomal Dominant | en |
dc.subject | autosomal dominant inheritance | en |
dc.subject | chromosome 16p | en |
dc.subject | End-stage renal failure | en |
dc.subject | Family Health | en |
dc.subject | gene duplication | en |
dc.subject | liquid | en |
dc.subject | missense mutation | en |
dc.subject | mother | en |
dc.subject | mutagenesis | en |
dc.subject | Mutation, Missense | en |
dc.subject | PKD1 | en |
dc.subject | Polycystic kidney disease | en |
dc.subject | polycystin | en |
dc.subject | polycystin 1 | en |
dc.subject | Polymorphism, Single-Stranded Conformational | en |
dc.subject | Renal disease | en |
dc.subject | Sequence Homology, Nucleic Acid | en |
dc.subject | TRPP Cation Channels | en |
dc.title | Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families | en |
dc.type | info:eu-repo/semantics/article | |
dc.identifier.doi | 10.1038/sj.ejhg.5200696 | |
dc.description.volume | 9 | |
dc.description.startingpage | 677 | |
dc.description.endingpage | 684 | |
dc.author.faculty | Σχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences | |
dc.author.department | Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences | |
dc.type.uhtype | Article | en |
dc.description.notes | <p>Cited By :8</p> | en |
dc.source.abbreviation | Eur.J.Hum.Genet. | en |
dc.contributor.orcid | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] | |
dc.gnosis.orcid | 0000-0001-5549-9169 | |