فهرست مطالب نادیا میرزایی

Beta-thalassemia is a group of inherited blood disorders with autosomal recessive inheritance. The most effective strategy is to reduce the incidence of this genetic disease, which can be accomplished by utilizing appropriate prenatal diagnosis in clinical practice. Aggressive biopsy during the pregnancy is associated with an abortion risk of approximately 1% for the fetus. Free fetal DNA in maternal plasma is an excellent source of genetic material for prenatal molecular diagnoses. Relative haplotype dosage (RHDO), a haplotype‐based approach, has shown promise as an application for noninvasive prenatal diagnosis. This study was conducted to investigate beta thalassemiain the fetus through maternal blood with NGS technique and RHDO analysis. Total of 5 beta-thalassemia carrier couples (minor) were genotyped by ARMS-PCR for IVSII-I G>A mutation. During the pregnancy, 10 ml of blood was collected from pregnant women, A sample of saliva was also taken from their Husbands. Samples were sent to the Genoma Center of Italy for NGS examination. Finally, results were compared with those of the invasion method.The results of NGS technique with RHDO analysis without having to analyze the affected person by haplotypic block analysis have 100% accuracy. The results with cffDNA were confirmed by invasive methods according to the national protocol for beta-thalassemia. A total of 5 fetal samples belong to above couples were genotyped for IVSII-I G>A mutation, in which 1 fetus were affected, 2 fetus were normal and 2 fetus were carrier of beta-thalassemia. Sensitivity and specificity of NGS test were equal to 100% and 100% respectively. Also, positive and negative predictive values were obtained as 100% and 100%, respectively.Targeted sequencing of maternal plasma DNA for NIPD of  beta- thalassemia  and  using  SHAPEIT software  for RHDO analysis is feasible, proved that it is applicable to construct parental haplotypes without information from other family members.

Chromatin Epigenetic changes have a key role in pathophysiology of prostate cancer. The most important epigenetic changes are change in DNA methylation, histones modifications, changes in chromatin status and micro RNAs regulatory patterns which are related to tumor creation. Histone deacetylases (HDACs) comprise a large family of enzymes which act as key regulators of nucleosomal histone consistency. HDACs have a great role to start and develop prostate cancer which is due to changes they create. Epigenetic modifications, in particular DNA hypermethylation and histone acetylation have an essential role in the regulation of genes that protect against prostate cancer. Since epigenetic changes are reversible, they are interesting targets for cancer therapy. Many epi-drugs such as histone deacetylase inhibitors (HDACi) show anti-cancer properties in either cell culture or in the animal models of prostate cancer.
In this case-control study, RNA extraction was performed on samples then the expression of HDAC1 in human prostate cancer using reverse-transcription polymerase chain reaction (RT-PCR). This study was conducted comparing 20 patients diagnosed with prostate cancer to 20 disease free control subjects.
Findings: Our findings suggest that the expression of HDAC1 mRNA is tangible and a significant difference was observed between patients and control subjects.
Discussion & These results imply that HDAC1 mRNA expression could have potential as a marker and may have prognostic implications for Prostate cancer progression.