Determining specific thyroid transcripts in peripheral blood: A single center study experience

Thyroid carcinoma (TC) comprises a spectrum of different tumors with a wide range of biological behavior and prognosis. The techniques based on the latest trends in molecular biology may have application in diagnosis of metastatic TC. The aim of this study was to apply and analyze mRNA expression in peripheral blood of thyrotropin receptor [thyroid stimulating hormone receptor (TSHR-mRNA)] gene and thyroglobulin (Tg-mRNA) gene using 2–ΔΔCt method in differentiated TC patients and healthy individuals. Fifty-seven subjects were included in the study, consisting of 40 patients with TC and 17 healthy volunteers as a control group. Total RNA was isolated from peripheral blood and used for two-step reverse transcriptase-polymerase chain reaction (PCR). Real-time PCR was performed with appropriate primers. Relative quantification using the 2–ΔΔCt method was applied. Thyroid carcinoma patients with metastatic disease or loco-regional relapse expressed TSHR-mRNA by a 8.57-fold higher level than healthy controls. Thyroid carcinoma patients with biochemical relapse expressed TSHR-mRNA by a 14.17-fold higher level than healthy controls, while expression of Tg-mRNA was 6.6-fold higher in TC patients with metastatic disease and loco-regional relapse than healthy controls and 8.34-fold higher level compared with TC patients with excellent response to treatment. Our preliminary study showed that the TSHR gene expression might have more useful application as a biomarker compared to detection of Tg gene expression

Distribution of the Most Common Genetic Variants Associated with a Variable Drug Response in the Population of the Republic of Macedonia

Genetic variation in the regulation, expression and activity of genes coding for Phase I, Phase II drug metabolizing enzymes (DMEs) and drug targets, can be defining factors for the variability in both the effectiveness and occurrence of drug therapy side effects. Information regarding the geographic structure and multi-ethnic distribution of clinically relevant genetic variations is becoming increasingly useful for improving drug therapy and explaining inter-individual and inter-ethnic differences in drug response

A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

In a worldwide collaborative effort, 19,630 Y-chromosomes were sampled from 129 different populations in 51 countries. These chromosomes were typed for 23 short-tandem repeat (STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, GATAH4, DYS481, DYS533, DYS549, DYS570, DYS576, and DYS643) and using the PowerPlex Y23 System (PPY23, Promega Corporation, Madison, WI). Locus-specific allelic spectra of these markers were determined and a consistently high level of allelic diversity was observed. A considerable number of null, duplicate and off-ladder alleles were revealed. Standard single-locus and haplotype-based parameters were calculated and compared between subsets of Y-STR markers established for forensic casework. The PPY23 marker set provides substantially stronger discriminatory power than other available kits but at the same time reveals the same general patterns of population structure as other marker sets. A strong correlation was observed between the number of Y-STRs included in a marker set and some of the forensic parameters under study. Interestingly a weak but consistent trend toward smaller genetic distances resulting from larger numbers of markers became apparent