X-Chromosomal short tandem repeat loci in the Turkish population

In this study, we aimed to demonstrate the importance and utility of polymorphic short tandem repeat (STR) found on the human X chromosome and to provide the first allelic frequency data of X-STR (X chromosomal) loci in the Turkish population. Blood samples were taken from unrelated individuals (135 males and 129 females) from different regions of the country. Primers were designed according to gene bank data (www.gdb.org) and synthesised by the Köln Blutgruppen Institute. The primers amplified the following loci on the X chromosome: DXS8377, DXS101, DXS6789, STRX-1 and HUMHPRTB. Our data showed that two loci, DXS8377 and DX101, had the highest number of alleles (18) and the polymorphism information content (PIC) values of these loci were 0.9 and 0.87, respectively and were higher than those of other loci. In the other loci examined, 11 (STRX1), 10 (DXS6789) and 9 (HPRTB) alleles were detected and the PIC values of these loci were 0.78, 0.68 and 0.70, respectively. The highest (0.899) and lowest (0.674) rate of heterozygosity was found in the DXS8377 and HPRTB loci, respectively. In all loci, the power of discrimination for female (PDF) values were higher than the power of discrimination for male (PDM) values. The locus with the highest PDF value was DXS8377 (0.9841). The mean exclusion change (MEC) value of this locus also proved to be the highest for both fathermother- child and father-child. The locus with the lowest MEC value was DXS6789. To use calculations of probabilities of genetic results for forensic purposes, allelic frequencies in individuals in the community should be determined. Our study provides the first data from the Turkish population.Key words: X chromosomal (X-STR), forensic genetics, forensic sciences, DNA, kinship testing, paternity

16th IHIW: Immunogenetics of Aging

Ageing is a process characterised by progressive loss of function in multiple different organ systems, such as the nervous, endocrine and immune systems. Current data showing that ageing processes may be associated with alterations in the immune system suggest that some of the genetic determinants of senescence might be polymorphic genes that regulate immune responses. The ‘Immunogenetics of Aging’ programme was a component introduced in the 14th International HLA and Immunogenetics Workshop (IHIWS) and developed further within the 15th and 16th. The aim of this component was to determine the contribution of immune genes to successful ageing and an increased capacity to reach the extreme limits of lifespan. Within the 16th IHIWS, new populations were included, and the number of samples analysed was increased. Analysis was focused on innate immunity genes (KIR and MBL2) and their correlation with CMV serostatus. Collaborative studies suggested that both activating and inhibitory KIR and functionally relevant MBL2 haplotypes are important factors for control of CMV infection in the elderly and therefore for chronic low-grade inflammation. Results showed that these genes might be predictive biomarkers in ageing and longevity. Prevalence of MBL2 haplotypes determining absence of the protein (LYPB, LYQC and HYPD) was observed in elderly people with a higher CMV antibody titre. The high CMV titre was also associated with a decreased frequency of the activatory KIR2DS5 and A1B10 haplotypes in elderly. Due to the role of KIR and low or deficient MBL haplotypes in viral infections, these genetic markers could be considered as indicators of a need for CMV prophylaxis at younger age and therefore increased probability of longer lifespan

X-Chromosomal short tandem repeat loci in the Turkish population

In this study, we aimed to demonstrate the importance and utility of polymorphic short tandem repeat (STR) found on the human X chromosome and to provide the first allelic frequency data of X-STR (X chromosomal) loci in the Turkish population. Blood samples were taken from unrelated individuals (135 males and 129 females) from different regions of the country. Primers were designed according to gene bank data (www.gdb.org) and synthesised by the Koln Blutgruppen Institute. The primers amplified the following loci on the X chromosome: DXS8377, DXS101, DXS6789, STRX-1 and HUMHPRTB. Our data showed that two loci, DXS8377 and DX101, had the highest number of alleles (18) and the polymorphism information content (PIC) values of these loci were 0.9 and 0.87, respectively and were higher than those of other loci. In the other loci examined, 11 (STRX1), 10 (DXS6789) and 9 (HPRTB) alleles were detected and the PIC values of these loci were 0.78, 0.68 and 0.70, respectively. The highest (0.899) and lowest (0.674) rate of heterozygosity was found in the DXS8377 and HPRTB loci, respectively. In all loci, the power of discrimination for female (PDF) values were higher than the power of discrimination for male (PDM) values. The locus with the highest PDF value was DXS8377 (0.9841). The mean exclusion change (MEC) value of this locus also proved to be the highest for both father-mother-child and father-child. The locus with the lowest MEC value was DXS6789. To use calculations of probabilities of genetic results for forensic purposes, allelic frequencies in individuals in the community should be determined. Our study provides the first data from the Turkish population

Effects of Acute Hyperglycemia on Blood Brain Barrier During Pentylenetetrazole-induced Epileptic Seizures

Epileptic seizures are one of the most common neurologic disorder and lead to disruption of Blood-brain Barrier (BBB). In animal experiments, seizure susceptibility has been shown to increase with incremental blood glucose. Moreover, clinical information regarding seizures and parameters of glucose control is lacking. The aim of this study is to examine the effect of acute hyperglycemia on permeability of Blood Brain Barrier (BBB) and the immunoreactivity of Zonula occludens-1 (ZO-1) and Glial Fibrillary Acidic Protein (GFAP) during Pentylenetetrazole (PTZ)-induced epileptic seizures. Experimental rats are divided into four groups. Evans blue was used as BBB tracer; ZO-1 and GFAP were determined by an immunohistochemical method. The BBB permeability of three parts of the brain in acute hyperglycemia+PTZ group compared to PTZ group (p<0.05). Immunoreactivity of ZO-1 decreased in acute hyperglycemic rats (p<0.05). GFAP immunoreactivity also significantly increased in PTZ and acute hyperglycemia+PTZ (p<0.01). This study was conducted to determine if acute hyperglycemia aggravates seizure changes GFAP activation and increases BBB damage during seizures