Showing 7 results for Genotype
Bokharaei-Salim F, Keyvani H, Zamani F, Jahanbakhsh Sefidi F, Amiri A,
Volume 69, Issue 10 (1-2012)
Abstract
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Background: Hepatitis
C
virus (HCV) is
essentially considered as hepatotropic, but virus sequences have also been
found in other important extrahepatic sites, including peripheral blood
mononuclear cells (PBMCs). This study was done to investigate the presence of mixed
infection and the differences between hepatitis C virus genotypes in plasma, peripheral blood mononuclear cells, and
liver biopsy specimens in patients with hepatitis C virus infection.
Methods : One hundred and fifty two patients with established chronic
hepatitis C infection attending Firouzgar Hospital, affiliated to Tehran
University of Medical Sciences, from September 2008
to April 2010 were enrolled in the present study. After collecting plasma,
peripheral blood mononuclear cell, and liver biopsy specimens, RNA was extracted from the samples
and hepatitis C virus genotyping was performed using INNO-LiPATM HCV II kit. The hepatitis C virus genotyping was confirmed by sequencing the RT-nested PCR product of 5'-UTR fragments.
Results : The mean age of the participants was 31.2±16.9
years. Multiple hepatitis C virus genotypes were detected
in 4 (2.6%) out
of 152 plasma
samples, 10 (6.6%) out of 152 peripheral blood mononuclear cell samples, and 9 (18.8%) out of 48 liver biopsy specimens. Hepatitis
C
virus genotypes were different in the plasma, PBMC, and liver biopsy specimens of 21
(13.8%) patients.
Conclusion: The present study
shows that a significant proportion of patients with chronic hepatitis C infection are infected by
multiple hepatitis C virus genotypes which may not be detectable in their plasma specimens.
Sara Rostami, Leila Kohan, Mohammad Mohammadian Panah, Fereshteh Fereiduni,
Volume 72, Issue 6 (9-2014)
Abstract
Background: Leptin is an adipokine made by fat cells and plays a key role in proliferation, cell survival, migration and immune response. Several studies have suggested that individuals with high serum leptin concentrations would increase the risk of breast cancer. G -2548A polymorphism in the leptin gene is located in the promoter region and is associated with the change of leptin serum level. In this study, the association between G -2548A polymorphism in leptin gene and breast cancer susceptibility was investigated.
Methods: This case-control study was done on 374 Iranian women. This study was performed from March 2013 to February 2013. Blood samples from 203 women with breast cancer and 171 age (±5)- matched healthy women were collected. Breast cancer patients were selected from Namazi Hospital in Shiraz city. Genomic DNA was extracted from blood samples. The G -2548A polymorphism of leptin gene was determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Data analysis was performed by SPSS version 18. Logistic regression analysis was used for association of breast cancer susceptibility and G -2548A polymorphism of leptin gene.
Results: The A allele frequency was 60% in control group and 72% in breast cancer patients. There was a significant association between A allele in -2548 position of leptin gene and breast cancer susceptibility (OR: 1.8, 95% CI: 1.3-2.4, P<0.001). In the reces-sive effect of the A allele (comparison between AA vs. AG+GG), AA genotype in -2548 region of leptin promoter sequence was significantly increased the risk of breast cancer (OR=2.2, 95% CI: 1.5-3.4, P<0.001).
Conclusion: It is concluded that A allele in the -2548 promoter region of leptin gene may act as a recessive allele and increase the breast cancer risk.
Najmeh Jouyan , Babak Saffari , Elham Davoudi-Dehaghani, Negar Saliani , Sara Senemar , Marzieh Bahari , Neda Jouyan , Mohammad Ali Ostovan ,
Volume 72, Issue 12 (3-2015)
Abstract
Background: Polymorphisms of the upstream transcription factor 1 (USF1) have been associated with familial combined hyperlipidemia (FCHL), type 2 diabetes and coronary heart diseases (CHD). In the current investigation, the association of USF1s2 variant of human USF1 gene with premature coronary artery disease (PCAD) was evaluated in a population from southern Iran. USF1s2 has the best potential as a functional variant .in the USF1 gene.
Methods: In a case-control study USF1s2 variant of human USF1 gene was determined by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) technique using BsiHKA I restriction enzyme for 186 women under 55 years of age and 135 men less than 50 years of age who underwent diagnostic coronary angiography in Saadi, Nemazee and Kowsar Hospitals of Shiraz, between July 2009 and March 2012. Data on the history of familial myocardial infarction or other heart diseases, hypertension, and smoking habit were collected by a simple questionnaire. Blood sugar level and serum lipid profile of all participants were also obtained by measuring the levels of fasting blood sugar (FBS), total cholesterol (TC), triglycerides (TG), low density lipoprotein (LDL) and high-density lipoprotein cholesterol (HDL).
Results: Frequencies of the major (G) and minor (A) alleles of usf1s2 gene variant were 0.74 and 0.26 in the whole population, respectively. Meanwhile, the prevalence of the minor allele was significantly higher in PCAD patients compared with control subjects. This difference remained significant even after adjustment for confounding parameters. Indeed, subjects with mutant homozygous genotype (AA) were about 5 times more likely to suffer from early-onset CAD than those with wild-type homozygous genotype (GG). Moreover, the baseline characteristics of the control subjects and patients were statistically similar for almost all parameters except for the number of male individuals there was no significant difference among various genotypes in the patient group for any of these investigated variables.
Conclusion: It appears that the usf1s2 variant in upstream transcription factor 1 gene is an independent predictor of premature coronary artery disease in our population and applies its effects without affecting blood sugar and lipid levels.
Ehsan Sarraf Kazerooni , Ehteramolsadat Hosseini , Zohreh Sharifi , Azita Azarkeivan , Mehran Ghasemzadeh ,
Volume 74, Issue 5 (8-2016)
Abstract
Background: Human leukocyte antigen E is a member of non-classical HLA class I. Interaction between HLA-E molecule on the target cells and inhibitory CD94/NKG2A receptor on the cell surface of natural killer (NK) cells has an important role in the regulation of immune system against pathogens; therefore different cell surface expression of HLA-E molecule plays an important role in host resistance against viral infections as well as host response to treatment. Considering this fact, we analyzed the frequency of different HLA-E genotypes (HLA-E*01010101, HLA-E*01030103, HLA-E*01010103) in major thalassemic patients who underwent frequent transfusion therapy and are thus more susceptible to infectious diseases.
Methods: This study was a cross-sectional study of 104 major thalassemic patients who referred to Tehran Thalassemia Clinic between the years 2015 to 2016. Blood DNA was extracted and proliferated by sequence-specific primer polymerase chain reaction (SSP PCR). The PCR product was subjected to electrophoresis on 1.5 percent agarose gel then DNA fragment bands on the gel were detected by exposing to UV light. Furthermore, PCR products were also subjected to sequencing analysis for further confirmation.
Results: From 104 patients in this study, 49 (47.1%) were man and 55 (52.9%) were women. These patients were in the age range of 16 to 43 years (mean+SD; 31.03±4.7 year). The frequency of HLA-E*01010103 genotype (64.4 percent) was significantly (P= 0.001) higher than the genotypes of HLA-E*01010101 (15.4%) and HLA-E*01030103 (20.2%) whereas there was no difference between the frequency of HLA-E*0103 allele (52.4%) and HLA-E*0101 (47.6%).
Conclusion: This is the first study that examined the HLA-E polymorphisms in Iranian thalassemic patients referred to Tehran Thalassemia Clinic. This study has shown that the frequency of HLA-E*01010103 genotype was significantly higher than other genotypes of HLA-E whereas there was no difference between the frequency of HLA-E*0103 allele and HLA-E*0101 allele. Whether different frequencies of HLA-E genotype may affect thalassemic patients’ susceptibility to blood-borne infections will be of interest for future studies.
Mansour Bahardoust, Shahram Agah , Arash Sarveazad , Amir Hossein Faghihi , Asrin Babahajian , Seyed Ali Hashemi Kiapay , Farnaz Farsi , Marjan Mokhtare,
Volume 76, Issue 3 (6-2018)
Abstract
Background: One of the most important causes of chronic liver disease is hepatitis C virus (HCV), which causes liver cirrhosis and hepatocellular carcinoma. To control the prevalence of the disease, knowledge and information in risk factor of HCV are required. The aim of this study was to compare the risk factors of infection between HCV patients with genotypes 1a and 3a.
Methods: This is an observational analytical study. HCV patients who referred to the clinic of hepatology, Rasoul-e-Akram University Hospital from July 2015 to July 2017, were assigned to the genotype 1a and 3a. Demographic (age, sex, family history), clinical (cirrhosis, hepatocellular carcinoma) and laboratory data, history of intravenous drug and alcohol usage, and history of imprisonment were gathered and compared between two groups. All the patients completed the informed consent form. Data analysis was performed by SPSS software, version 22 (IBM SPSS, Armonk, NY, USA). P value less than 0.05 was considered statistically significant.
Results: Overall, 97 HCV patients were included in this study. Mean age was 45±12 years and 78 (80%) of patients were male. Among them, 58 (60%) and 39 (40%) had genotype 1a and 3a. respectively. History of injection drug usage was recorded in 34/39 (87%) of patients with genotype 3a, and significantly higher in genotype 3a as compared to genotype 1a [OR adj: 3.1, CI (1.3-6.2)]. Also, in this study, genotype 3a was significantly recorded in younger patients [OR adj: 1.7, CI (1.2-4.1)]. However, cirrhosis and hepatocellular carcinoma was more common in patients with genotype 1a as compared to genotype 3a [OR adj: 2.05, CI (1.6-5.4) and OR adj: 2.8, CI (1.3-5.7)] respectively.
Conclusion: According to the results of this study, hepatitis C virus transmission risk factors differed in genotypes 3a and 1a. Genotype 3a is found among young patients with a history of intravenous drug usage and genotype 1a in patients with cirrhosis and hepatocellular carcinoma.
Mehrdad Mohammadi, Jamshid Faghri,
Volume 77, Issue 4 (7-2019)
Abstract
Background: Staphylococcus aureus is a common pathogen in human that can be the cause of a wide range of infectious diseases including bacteremia, pneumonia, cellulitis, and osteomyelitis and skin and soft tissue infections. The coagulase enzyme is one of the most important virulence factors of this bacterium. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Coa pattern is one of the molecular base typing methods. Molecular typing plays an important role in epidemiological studies of nosocomial infection, such as methicillin-resistant Staphylococcus aureus (MRSA) infection. The PCR-RFLP Coa gene technique provides a useful preliminary method to monitor variations in MRSA populations. We were done Coa-RFLP typing according to the method of Hookey et al., with some modifications.
Methods: In this cross-sectional study, one-hundred fifty isolates of S. aureus from urine and blood samples of patients that collected from educational hospitals of Imam Hossein and Al Zahra Isfahan University of Medical Sciences, Iran, from February 2018 to October 2018 were analyzed. After bacterial confirmation of isolates by Coa gene in polymerase chain reaction (PCR) technique, to perform coagulase gene typing, the repeated units encoding hypervariable regions of the coagulase gene of S. aureus were amplified by PCR. This was followed by AluI restriction enzyme digestion and analysis of restriction fragment length polymorphism (RFLP) patterns.
Results: Of 150 samples, 45 isolated of S. aureus were confirmed by biochemical methods. Of previous positive samples, 36 (80%) isolates carried Coa gene. Two different genotypes of Coa gene were obtained that include bp680 fragment in 20 specimens and bp750 fragment in 16 specimens. After enzymatic digestion by AluI restriction enzyme for RFLP, four different restriction patterns were obtained that including, the 280+400 pattern in 16 specimens (44.4%), 280+470 pattern in 7 specimens (19.4%), 340+340 pattern in 6 specimens (16.6%) and 750 patterns without digestion were in 7 specimens (19.6%).
Conclusion: Using the present experiments, it was determined that the PCR-RFLP pattern, 280+400, was the dominant pattern in the Staphylococcus aureus samples isolated in Isfahan.
Mohammad Sadra Modaresi , Arta Amir Jamshidi , Mohammad Reza Modaresi ,
Volume 78, Issue 8 (11-2020)
Abstract
| Cystic fibrosis (CF) is the most common autosomal recessive genetic disease, which is caused by defection in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CFTR gene codes chloride channels to modulate the homeostasis of epithelial environments. Defective CFTR affects various organs such as the lungs, pancreas, intestine, liver and skin; however, lung impairment is the main reason for mortality in these patients. About 2000 mutations in this gene have been discovered, but nearly 150 mutations lead to serious symptoms. CFTR mutations are classified into six major classes based on phenotypic manifestations such as structural instability of channels, defective processing, malfunctioning chloride-ion transfers and decreased number of chloride channels in the cell membranes. These cause various symptoms such as respiratory infection, intestinal obstruction, pancreatic exocrine insufficiency and malabsorption. Significant improvements in diagnostic tools and methods such as newborn screening, chloride sweat test and gene sequencing have increased the incidence and the prevalence of CF. Enormous studies have also been done on CF recognition and treatment procedures, which have resulted in 30 years of growth in the life expectancy of the patients. Despite the recent achievements, due to the high complexity of this disease and the involvement of various organs, the available treatments are nonpermanent. In the past few years, new combinatorial drugs have been introduced which potentiate and correct CFTR and ameliorate the CF symptoms. Recently, novel genetic engineering methods like CRISPR/Cas9 and TALEN have been utilized to correct the mutated CFTR gene with high accuracy and eradicate the symptoms. Studying this disease at its distinct levels from subcellular to organs could help to find new treatments. Systematic research in finding common attributes between different states of the disease is very beneficial. Interdisciplinary research groups with various expertise in mathematics, biology and engineering could have a great impact on describing the full picture of the disease and development of new treatment strategies. The main part of this article provides a comprehensive overview of cystic fibrosis with emphasis on the key studies on genetics and their effects on cellular and physiological levels. In this work, conventional and new treatment methods have also been discussed. |
