Browsing by Subject "gene frequency"
Now showing items 1-20 of 24
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Allele distribution of 15 STR loci used for human identity purposes in the Greek Cypriot population of the island of Cyprus
(2006)Allele frequencies for 15 STRs (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, THO1, Penta E, D16S539, CSF1PO, Penta D and TPOX) in the PowerPlex®-16 System (Promega Corporation) were derived from a ...
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The cypriot and Iranian National Mutation Frequency Databases.
(2006)The National Mutation Frequency Databases are continuously updated mutation depositories, which contain extensive information over the described genetic heterogeneity of an ethnic group or population. Here, we report the ...
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Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease
(1996)Mutations in the PKD1 gene on the short arm of chromosome 16 account for 85%-90% of polycystic kidney disease patients in the Caucasian population. After the recent characterization of the gene, we started a search for ...
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A European spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics
(2016)Pharmacogenomics aims to correlate inter-individual differences of drug efficacy and/or toxicity with the underlying genetic composition, particularly in genes encoding for protein factors and enzymes involved in drug ...
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Evidence for association of endothelial cell nitric oxide synthase gene polymorphism with earlier progression to end-stage renal disease in a cohort of Hellens from Greece and Cyprus
(2004)Nitric oxide (NO) is thought to be an important factor in the deterioration of renal function. A variable-number tandem 27-bp repeat in intron 4 of the endothelial cell nitric oxide synthase (NOS3) gene has been found to ...
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Evidence for recent selection of the CCR5-Δ32 deletion from differences in its frequency between Ashkenazi and Sephardi Jews
(2000)Recent studies have shown higher frequencies of the CCR5-Δ32 allele and the CCR5-A32/Δ32 genotype, which confers protection against HIV infection, in northern Europe as compared to Mediterranean countries. Here, we analyse ...
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Familial Mediterranean Fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus
(2002)Familial Mediterranean Fever (FMF) is an autosomal recessive disease of high prevalence within Mediterranean countries and particularly common in four ethnic populations: Arabs, non-Ashkenazi Jews, Armenians, and Turks. ...
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Genetic polymorphisms in warfarin and tacrolimus-related genes VKORC1, CYP2C9 and CYP3A5 in the Greek-Cypriot population
(2014)Background: Two variants in the gene encoding the cytochrome P450 2C9 enzyme (CYP2C9) are considered the most significant genetic risk factors associated with bleeding after warfarin prescription. A variant in the vitamin ...
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Global distribution of the CCR2-641/CCR5-59653T HIV-1 disease-protective haplotype
(2000)Objectives: Several natural polymorphisms in the genes for the human CC-chemokine receptors CCR5 and CCR2 are associated with HIV-1 disease. The CCR2-641 genetic variant [a G to A substitution resulting in a valine (V) to ...
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Greek Cypriot allele and genotype frequencies for amplitype® PM-DQA1 and D1S80 loci
(1998)A sample from the Greek Cypriot population was typed at seven forensically important PCR-based loci: LDLR, GYPA, HBGG, D7S8, GC, HLA-DQA1, and D1S80. The results showed that all loci meet Hardy-Weinberg expectations and ...
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HIV-specific cytotoxic T lymphocytes, HLA-A11, and chemokine-related factors may act synergistically to determine HIV resistance in CCR5 Δ32-negative female sex workers in Chiang Rai, northern Thailand
(2001)Understanding how highly HIV-exposed individuals remain HIV uninfected may be useful for HIV vaccine design and development of new HIV prevention strategies. To elucidate mechanisms associated with resistance to HIV ...
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Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population
(2015)Background and Aims: Cystinuria represents 3% of nephrolithiasis in humans. Two genes have been identified as the main genetic causes of cystinuria, SLC3A1 and SLC7A9, with an autosomal recessive mode of inheritance. In ...
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The MTHFR 677TT and 677CT/1298AC genotypes in Cypriot patients may be predisposing to hypertensive nephrosclerosis and chronic renal failure
(2005)Aim. The homozygous 677TT mutation of the MTHFR gene has been linked to deep vein thrombosis and to arterial atherosclerotic events of the coronary, carotid and peripheral arteries. Its putative association with renal ...
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The MTHFR 677TT and 677CT/1298AC genotypes in Cypriot patients may be predisposing to hypertensive nephrosclerosis and chronic renal failureAAA
(2005)Aim. The homozygous 677TT mutation of the MTHFR gene has been linked to deep vein thrombosis and to arterial atherosclerotic events of the coronary, carotid and peripheral arteries. Its putative association with renal ...
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New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: Evolution of alleles
(1997)The PKD1 gene, which is responsible for the most common form of autosomal dominant polycystic kidney disease, has recently been cloned and sequenced. Many disease-causing mutations have been characterized in this gene, ...
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