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Showing 8 results for Subject: Human Genetics

Nasrin Ramezani , Behnaz Vanaky , Nader Shakeri , Zahra Soltanian , Fatemeh Fakhari Rad , Zahra Shams ,
Volume 13, Issue 1 (1-2019)
Abstract

ABSTRACT
           Background and Objectives: Diabetes is one of the most common diseases and a major risk factor for cardiovascular disease. Studies have shown that regular exercise can affect apoptosis in cardiomyocytes. The purpose of this study was to investigate the effect of high-intensity interval training on the expression of Bcl-2 and Bax as important apoptosis factors in diabetic rats.
           Methods: After inducing diabetes in 20 male Wistar rats (weighing 250 ± 1.15 g), the rats were randomly divided into a control group and a training group. The training group performed high-intensity interval training five days a week for four weeks, and the control group did not perform any training. After the intervention, RNA was extracted and TCF mRNA was subjected to real time RT-PCR for measuring Bax and Bcl-2 expression in the heart tissue of diabetic rats. Data were analyzed by IBM SPSS Statistics V22 using independent t-test. P-values less than 0.05 were considered as statistically significant.
           Results: The expression of Bcl-2 increased significantly and the expression of Bax decreased significantly after the four-week training intervention.
           Conclusion: The high-intensity interval training can have beneficial effects on the expression of apoptotic genes in rats with type 2 diabetes.
           Keywords: Bax, Bcl-2, High intensity interval training, Heart, Type 2 diabetes.

Esmat Barooti , Soodabeh Darvish , Nourossadat Kariman , Ghasem Yazdanpanah ,
Volume 13, Issue 1 (1-2019)
Abstract

ABSTRACT
             Background and objectives: Accurate diagnosis of preterm rupture of membrane (PROM) is critical during pregnancy, and researchers are seeking ways to decrease the rate of false negative results in diagnostic tests. In the present study, we compare diagnostic properties of Amnisure test and human chorionic gonadotropin (hCG) test for diagnosis of PROM.
             Methods: The study was performed on singleton pregnant women (gestational age: 20 to 41 weeks) who were referred to the Taleghani Hospital in Tehran (Iran) between December 2016 and December 2017. The study included 44 PROM patients and 44 control pregnant women. Speculum examination for cervicovaginal fluid washing, hCG test and Amnisure test were performed for all of patients.  Statistical analysis of data was performed in SPSS software package (Version 18, Chicago, IL, USA) using t-test, Chi-square test, and Mann-Whitney test. P-values less than 0.05 were considered statistically significant.
             Results: The Amnisure test had better sensitivity and specificity compared with the β-hCG test (95.5% and 97.7% vs. 93.2% and 95.5%). The Amnisure test also had higher positive and negative predictive values than the β-hCG test (97.7% and 95.5% vs. 93.3% and 94.3%). Diagnostic accuracy of the Amnisure test was also higher than that of the β-hCG test (96.6% vs. 94.3%).
             Conclusion: According to the results, the two tests have almost equal diagnostic power for detection of PROM during pregnancy.
             Keywords: Chorionic Gonadotropin, Fetal Membranes, Premature Rupture

Mana Zakeri, Amir Hosein Babaei, Mohamad Taghi Akbari, Shohreh Zare, Faravar Khordadpoor,
Volume 14, Issue 5 (9-2020)
Abstract

Background and objective:  Huntington's disease (HD) is an autosomal dominant disorder that mainly affects adults. Although mutations in the IT15 gene have been known as the main cause of the disease, patients with HD like (HDL) syndrome have mutations in genes other than the IT15 gene.  In this study, we investigate the frequency of mutations in SCA17/TBP, JPH3 and PRNP genes in patients with HDL syndrome.
 
      Methods: The frequency of mutations in SCA17/TBP, JPH3 and PRNP genes was studied in 56 patients with HDL phenotype but without trinucleotide expansion in the IT15 gene. DNA was extracted from peripheral whole blood by the salting out method. PCR was performed using specific primers for each gene. PCR products were separated on polyacrylamide gel. Sequencing was performed on some samples to confirm the PCR results.
 
      Results: We found neither trinucleotide expansion in the JPH3 and SCA17, nor octapeptide insertion in the PRNP gene.
 
      Conclusion: Based on the results, Iranian patients with HDL syndrome do not have mutation in the TBP, JPH3 and PRNP genes. However, this result may be due to population differences, rarity of the mutations in the studied genes and the small number of study subjects. Therefore, studies with a larger study population that investigate other mutations, such as point mutations in the mentioned genes may help clarify the exact cause of HDL phenotype in Iranian patients.

Mana Zakeri, Alireza Mohebbi, Fatemeh Sana Askari, Mohammad Yasaghi,
Volume 14, Issue 6 (11-2020)
Abstract

Background and objectives: Pathogenesis of human papillomaviruses (HPVs) is controlled by viral and host factors, among which human histone acetyltransferase p300 (EP300) plays an important role. This study aimed to examine single nucleotide polymorphisms (SNPs) at the EP300 binding site in patients with HPV-associated anogenital wart.
     Methods: After DNA extraction, polymerase chain reaction was performed to determine HPV genotypes. Human p300 was amplified to detect SNPs using Sanger sequencing.
     Results: Overall, 35.3% of HPV-6-positive patients had Ile997Val substitution at the EP300 binding site. Another SNP containing A to G point mutation leading to Glu983Gly was also detected. In addition, Ile997Val substitution of EP300 was frequently observed in the patients.
     Conclusion: Our findings suggest that the EP300 genotype Ile/Val can be involved in HPV-6 pathogenesis. In addition, we introduced a new genotype (Glu983Gly) at the EP300 bromodomain site, which requires further investigation.

Najmatol Sabah Alavizadeh, Amir Rashidlamir, Seyed Mahmoud Hejazi,
Volume 15, Issue 1 (1-2021)
Abstract

Background and objectives: Chemokines are a group of proteins involved in both innate and adaptive immunity with a significant role on homeostasis and immune system development. The present study aimed to evaluate effects of eight weeks of cardiopulmonary rehabilitation exercise after coronary artery bypass surgery on expression of chemokines CCL2 and CCL5 in peripheral blood mononuclear cells of middle-aged men.
Methods: The study was performed on 45 middle-aged men that had undergone coronary artery bypass surgery. The subjects were randomly divided into three groups of control (n=15), aerobic exercise (n=15) and combined aerobic-resistance exercise (n=15). The trainings were performed three times a week for eight weeks at 60-75% of target heart rate. Fasting blood samples were collected 24 hours before the first training session and 48 hours after the last training session. Lymphocytes were separated by centrifugation. Change in gene expression was investigated by real time-PCR. Data were analyzed in SPSS (version 16) using one-way analysis of variance and Tukey’s post hoc test.
Results: The eight week exercise training significantly decreased expression of CCL2 compared to the control group.
Conclusion: Rehabilitation exercise can be an effective way to prevent, control or reduce atherosclerosis by lowering expression of CCL2 and CCL5.

Ahmad Hamta, Maliheh Hosseinpour, Majid Komijani,
Volume 15, Issue 4 (7-2021)
Abstract

Background and objectives: Breast cancer is the leading cause of death in women. Cytokines regulate the intensity and continuity of immune response by balancing cell-mediated immunity and humoral responses. This study aimed to investigate the relationship between two polymorphisms of the interleukin-16 (IL-16) gene and risk of breast cancer.
Methods: Blood samples were collected from 80 breast cancer patients and 80 healthy individuals. Polymorphisms rs11556218 T/G and rs4072111 C/T were investigated by polymerase chain reaction-restriction fragment length polymorphism (RFLP-PCR). Then, genotype and allele frequency distributions were evaluated in each group using the SPSS software (version 24).
Results: The frequency of genotype rs11556218 differed significantly between the patients and controls (P=0.007). The TG genotype (odds ratio [OR]= 2.471, 95% confidence intervals [CI]: 1.229-4.965, P= 0.001) and total TG+GG genotypes (OR= 3.095, 95% CI: 1.624-5.899, P= 0.001) had a significant relationship with increased risk for breast cancer. The allele and genotype frequencies of rs4072111 C/T polymorphism did not differ significantly between the patients and controls.
Conclusion: Our findings suggest that the rs11556218 T/G polymorphism of the IL-16 gene may be associated with susceptibility to breast cancer.

Fatemeh Asadi, Hamedreza Goodarzi, Javad Zahiri, Mojtaba Jafarinia,
Volume 16, Issue 1 (1-2022)
Abstract

Coma is a state of prolonged unconsciousness. Some coma cases result from inherited disorders such as fatty-acid β-oxidation disorder, acute intermittent porphyria (due to mutations in genes CPT I, CPTII and ACADM), urea cycle defects (due to mutation in OTC gene), organic acidurias, mitochondrial diseases and familial hemiplegic migraine (due to mutations in CACNA1A, ATP1A2 and SCN1A). The evaluation of familial cases of coma or sporadic coma can be performed using next generation sequencing (NGS), a high-throughput  sequencing technique that can sequence an entire genome in a single reaction. This technique has been widely applied in the genetic diagnosis of diseases. In this review, we describe some genes associated with coma or recurrent coma and discuss the role of NGS in detection of these genes.  
Khodaberdi Kalavi, Mohammad Ali Faghihi, Ogholniaz Jorjani , Zolikha Tatari,
Volume 16, Issue 5 (9-2022)
Abstract

Dear Editor,
There are several reports about the modulatory effects of intracellular pathogens, such as Leishmania spp., to help survival and replication inside host cells. They alter host cells' defense and offence mechanisms, and in case of leishmaniasis, the pathogen creates a hostile environment inside macrophages. We performed an RNA sequencing analysis of transcriptome changes in Leishmania major-infected human macrophages at four hour post infection. In this study, we investigated gene expression pattern of the infected macrophages against microbead (4.16 µm) polystyrene particles phagocytized and non-polarized macrophages as controls. Monocytes with high purity were isolated from healthy donors by magnetic-activated cell sorting and then differentiated into macrophages after 6-9 days of incubation at 37 ˚C.
In this study, we focused on some key interaction events between host cell and the pathogen; so some feature steps resulting from dictation strategies of the pathogen are presented below.

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