Genetic polymorphisms of the apolipoprotein A-IV in a Greek population and their relation to plasma lipid and lipoprotein levels.

Apolipoprotein (apo) A-IV is a protein component of triglyceride-rich lipoproteins and high-density lipoproteins (HDL). In this study, two common genetic polymorphisms of the apoA-IV gene [codons 347(allele A and T) and 360 (allele 1 and 2)] were investigated in Greek patients with hyperlipidaemia and in healthy individuals matched for age, sex and smoking habits. In both study populations we evaluated the effect of these polymorphic sites on lipid and lipoprotein plasma levels and the body mass index (BMI). The frequencies of the 1/1 and 1/2 genotypes in codon 360 were 0.94 and 0.06 in hyperlipidemic patients and 0.92 and 0.08 in the control population, respectively. The frequencies of the A/A, A/T and T/T genotypes in codon 347 were 0.62, 0.34 and 0.04 in hyperlipidemic patients and 0.59, 0.33 and 0.08 in the control population, respectively. None of the above genotype frequency differences between the study populations reached statistical significance. The control population was not affected by any polymorphism of the apo A-IV gene. Hyperlipidaemic patients, carriers of the allele 2 (1/2 genotype), had significantly lower plasma triglyceride levels than carriers of the allele 1 (p = 0.03). Genetic variation in codon 347 had no influence on lipid and lipoprotein plasma levels. None of the polymorphisms at codons 360 and 347 affected the BMI. In conclusion, this study describes for the first time the genotype frequencies for polymorphic sites in codons 360 and 347 of the apo A-IV gene in a Greek population and suggests that the presence of the allele 2 is associated with lower plasma triglyceride levels in hyperlipidaemic patients.

Data on nine STR loci used for forensic and paternity testing in the Greek Cypriot population of Cyprus.

Allele frequencies for the nine STRs included in the AMPFlSTR kit were obtained from a sample of 152 unrelated Greek Cypriot from the Mediterranean island of Cyprus

Greek Cypriot allele and genotype frequencies for Amplitype PM-DQA1 and D1S80 loci.

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 that there is no evidence for association of alleles between loci. Allelic frequency distributions at all loci, except HLA-DQA1 and two D1S80 alleles, were similar to those of U.S. Caucasians. Greek Cypriot population databases have been created and can be used for forensic analyses to estimate the frequency of a multiple locus DNA profile.

Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene.

Zinc finger genes represent a large multigene family present in mammalian and other genomes. A subgroup of these genes contain a conserved motif, the KRAB domain, at the NH2-terminal region, which was recently shown to posses a potent transcriptional repression activity. For one such gene, ZNF45, we determined the complete coding sequence, along with the exon/intron arrangement and the splice junctions. Exon 2 codes exclusively for the KRAB-A element of 42 amino acids, and exon 4 contains the 19 zinc finger repeats. In addition, we generated an EST (expressed sequence tag) from the 3'-end of ZNF45 that we used for polymerase chain reaction screening of a P1-derived genomic library. We isolated a 65-kb clone that was used for localizing this gene on chromosome 19q13.2 by fluorescence in situ hybridization.