Showing 17 results for Genetic
M Sheikhha, N Ghasemi, H Nazem, A Homaei, F Haghirossadat,
Volume 18, Issue 4 (9-2010)
Abstract
Introduction: The importance of scientific research in prevention of drug addiction is obvious. The main site of drug action is the brain. Mu receptor is the first place of drug action. In this study, the rate of mu receptor gene single nucleotide polymorphism (SNP) was compared in addicts and non-addicts.
Methods: In this study AA, AG and AA polymorphism of mu receptor gene was investigated in 47 addicts and 30 non-addicts (controls). DNA was extracted by salting out method from peripheral blood and the PCR-Arms was performed.
Results: In control group, 66.7% had AA polymorphism while 68.1% of addict group showed this polymorphism. The AG polymorphism was 30% and 27.7% in control and addict groups, respectively. The GG polymorphism was 3.3% in control and 4.3% in addict group. There were no significant differences between the two groups.
Discussion: Our results indicated that there is no relationship between the mu receptor gene SNP and addiction. The other SNPs in this gene and other genes must be investigated. In addition, it seems that other factors such as environmental factors could play a role in addiction.
M Fasihi Ramandi, S Haqparast,
Volume 18, Issue 4 (9-2010)
Abstract
Introduction: The G to A mutation in KCNJ11 the ATP-sensitive potassium channel subunit, results in glutamate (E) to lysine (K) substitution at codon 23, and the A allele is shown to have a relationship with type II diabetes in our previous study. Their role in coronary heart disease (CHD) is not exactly obvious. We hypothesized that the polymorphism would be associated with increased susceptibility to CHD.
Methods: The E23K gene polymorphism of KCNJ11 gene was analyzed by PCR-restriction fragment length polymorphism (PCR-RFLP) methods in 55 controls and 73CHD patients. Serum lipids and Fasting Blood Sugar concentrations were measured in all subjects.
Results: Among the CHD patients, the frequency of the A allele was higher (34.9% vs. 26.4%, P<0.05) and the frequency of the G allele was lower (65.1% vs. 73.6%, P>0.05) than among controls. No significant differences were found in allele frequencies between CHD and controls (P>0.05). Also, there were no significant differences in GG and combined (GA+AA) genotypes frequencies (42.5% vs. 56.4%, and 57.5% vs. 43.6%, P>0.05).
Conclusion: The E23K gene polymorphism in KCNJ11 gene has no association with the high susceptibility to CHD.
S Akhavan Karbasi, M Golestan, R Fallah, F Behnaz,
Volume 19, Issue 3 (8-2011)
Abstract
Introduction: Mental retardation is one of the most important problems of general health. The purpose of this study was to evaluate inheritance pattern of mentally retarded patients in Yazd city.
Methods: In a descriptive cross- sectional study, all medical records and pedigrees of 320 mentally retarded children whose parents had referred for genetic consultation to the Welfare center of Yazd city were reviewed.
Results: Of the total, 62.8% of the parents had consanguineous marriage. Mean inbreeding coefficient of offsprings was 0.0713 in third degree related parents versus 0.0156 in non-related parents. Mental retardation was seen in 43.4% of first– degree relatives of children (6.6% of parents and 36.8% of siblings, respectively). Frequency of mental retardation did not differ significantly in both sexes. Pedigree showed inheritance pattern in 43.4% of patients (autosomal recessive, autosomal dominant and x-linked inheritance pattern were seen in 33.75%, 6.9% and 2.8%, respectively), while 37% of patients had no definite inheritance pattern. Abnormal karyotype were seen in 19.4% of patients, 28 of whom(8.75% of all patients) had Down syndrome. The prevalence of autosomal recessive inheritance in patients with consanguineous marriages and non family marriages was 62.8 % and 10%, respectively (P=0. 002).
Conclusion: Since multiple cases of mental retardation were seen in families and rate of consanguineous marriage was more in parents of mentally retarded children, genetic counseling in consanguinity marriages and families of mentally retarded children can prevent incidence of mental retardation in these families.
M Hossein Pour Feizi, S Taghizadeh, N Pouladi, P Azarfam, V Montazeri,
Volume 19, Issue 3 (8-2011)
Abstract
Introduction: Immunological processes play an important role in recurrent spontaneous abortion(RSA). According to studies, T lymphocytes and natural killer cells(NK cells) are two effective cell groups in RSA. The aim of this study was to study the percentage and absolute number of natural killer(NK) cells in women with RSA of unknown etiology.
Methods: A total of 24 women with history of recurrent abortions of unknown etiology were studied and their peripheral blood NK cell counts were compared with a group of fertile patients.
Lymphocytes from peripheral blood were isolated by ficoll paque density centrifugation. Lymphocytes were stained using anti CD56, (FITC)-anti CD16 and CYQ-CD3 monoclonal antibodies for identification of NK cells. Anti CD56 and(FITC)-anti CD69 were used for detection of activated NK cells. BD FACS caliber flow cytometry was used for data analysis.
Results: On the basis of the obtained results, absolute number of CD16+56+ cells were significantly higher in Recurrent spontaneous abortion(RSA)as compared to the control group(P= 0.43). The absolute number of CD16+56 bright cells was also high in RSA(P=0.00). There was no significant difference in CD16+56dim cell count between RSA and control group(P= 0.08). In RSA, the absolute number of CD69+ cells was significantly high(P=0.02). Results also showed a significant increase in the absolute number of CD56+/CD69+ cells in RSA (P=0.04).
Conclusion: The higher percentage of NK cells in peripheral blood of RSA patients as compared to the control group may indicate the same increase in number and cytotoxicity of uterine NK cells.
M Ahmadzadeh Raji, A Khosravi, M Sanati, R Hajihoseini, A Ebrahimi, M Nabavi,
Volume 19, Issue 4 (10-2011)
Abstract
Introduction: Multiple Sclerosis is a chronic disease of central nervous system. Disease is more common in young adults and females and causes neurologic symptoms and signs. Cytokine IL-7 is a 25– kDa glycoprotein that has an important role in Lymphopoiesis. Interleukin VII receptor gene has been identified to be associated with multiple sclerosis, so its assessment is important.
Methods: We investigated 60 Iranian patients with clinically definite MS and 60 normal healthy controls with negative family history for MS. After blood sampling, DNA was extracted from the whole blood, then we used 2 sets of primers for promoter and exon 4 of IL-VII gene. These fragments were amplified by PCR technique and early screening was performed by SSCP technic in the presence of control samples. Then different patterns with control samples were sent for DNA sequencing.
Results: We observed one SNP in promoter. Most of the alleles of the patients were homozygote. There were two 2 SNPs and two sequence variations in exon 4 as P.H165H and P.V138I, which has been submitted in European Bioinformatics Institute under the access number of FR863587.
Conclusion: Further studies on control group will be required to reveal the effects of these SNPs on the ILVII-R α protein and they can probably be useed as a biomarker for early diagnosis of MS.
Ma Hossein Pour Feizi , M Rojhan Nejad , N Pouladi, P Azarfam, V Montazeri, M Halimi,
Volume 20, Issue 4 (10-2012)
Abstract
Introduction: Survivin gene, as an apoptosis inhibitor, plays an important role in development of breast cancer. The differential expression of survivin in cancer versus normal adult cells as well as an association between high expression of survivin and aggressive tumors has led to use of survivin as a molecular marker for diagnosis and prognosis of tumors. The underlying mechanism of survivin over expression in cancers is not recognized yet. There is a probability that some polymorphisms in this gene can result in uncontrolled manner of this gene. The C-31G, a widely studied polymorphism in the survivin promoter, could de-repress the cell cycle- dependent transcription of survivin gene, resulting in over expression of survivin. In this hospital- based, case- control study, we aimed to investigate the correlation between the genetic polymorphism of -31G/C, surviving promoter, and breast cancer (BC) in North West of Iran.
Methods: In this case–control study, the -31G/C single nucleotide polymorphism (SNP) of survivin promoter in peripheral blood samples was collected from 94 breast cancer patients with pathologically confirmed BC and 82 healthy subjects. The data were analyzed by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) and gene sequencing.
Results: Statistical analysis showed that within breast cancer patients, genotype frequencies were 50%, 46.8% and 3.2% for -31G/G, -31G/C and -31C/C genotypes respectively, whereas they were 50%, 45.1% and 4.9 % for -31G/G, -31G/C and -31C/C genotypes in healthy individuals. Also the frequencies for -31 C allele were 26% and 27% in the cases and controls respectively. No statistically significant association was found between breast cancer and the variant genotypes (CC and CG).
Conclusion: It seems that there was no significant association between -31G/C polymorphism, BC, and clinicopathological characteristics in the population of our study.
E Mozaffari, A Doosti, R Nemati, M Faghani, M Makhlooei,
Volume 23, Issue 5 (8-2015)
Abstract
Introduction: Migraine is a common debilitating headache with reversible pain attacks associated with temporal changes in the diameter of head blood vessels. According to the International Classification for the Headache Society, migraineurs are divided into two main categories: migraine with aura and migraine without aura. The present study aimed to investigate the association between COX-2-765G →C genetic polymorphism and the risk of migraine.
Methods: In this study, genomic DNAs related to the blood tissues of 100 migraine patients and 100 controls were extracted and purified. The expected region of COX-2 gene was amplified utilizing the appropriative COX-2-765G→C (rs20417) primer in the PCR process. Then, the enzyme digestion was performed using RFLP manner and Aci I restriction enzyme. Moreover, the SPSS software (version 20) was applied in order to analyze the study data.
Results: The study results revealed that the frequency of the COX-2-765CC and COX-2-765CG genotypes in migraine cases were significantly higher than those of controls.
Conclusion: The study findings demonstrated that COX-2-765G→C polymorphism can increase the risk of migraine susceptibility. However, further studies are necessitated to be conducted on larger samples in different nations in other parts of the world in order to assess the role of COX-2 gene variants in the migraine development.
F Nazmiye , Mh Sheikhha , M Kamali Zarch ,
Volume 24, Issue 8 (11-2016)
Abstract
Introduction: The physiological changes in pregnancy lead to the psychological pressures. Therefore, there is a need for applying cognitive behavioral and emotional confronting to encounter these problems. The present research investigated the effect of coping therapy on general health of pregnant women with high risk of genetic abnormalities in their fetus.
Methods: The present study was a semi experimental research. Pre and post tests were used to investigate coping therapy between 30 pregnant women who were referred to Khatomolanbia Genetic Clinic, Yazd, Iran. All the women had pregnancy screening test with high risk of genetics abnormalities in their fetus. They were divided randomly into two groups of case and controls. The test of GHQ was performed in both groups, then the case groups went under 8 sessions of teaching coping therapy each lasting 120 min. After finishing the sessions, post test was performed and analyzing the data using descriptive statistical index and covariance analysis test.
Results: Teaching coping therapy to case group caused improvement in their GHQ mark, and this change was significantly different from the change in the GHQ mark of control group. In addition, there was a significant decrease in anxiety, depression and physical signs and an improvement of social function in case group compare to the control group.
Discussion: Teaching coping therapy can improve the general health of pregnant women with high risk of genetic abnormalities in their fetus. Therefore, presenting educational courses to the women can improve their general health indices in addition to preventing the probable effects of stress on fetus.
F Makkizadeh, N Nayeb Mahdiabadi , E Zalzadeh, M Tavakkoizadeh Ravari,
Volume 25, Issue 4 (7-2017)
Abstract
Introduction
Genetics is a broad issue which is associated with diversity and inheritance in all the living beings. Numerous researches have been implemented in this sphere. Meanwhile, significant steps have been taken during the past few years including identification of active research fields of the area as well as recognition of scientific literature in the sphere. This study, therefore, seeks to identify core and frequently-taken subjects as well as newly-emerged or emerging subjects in the area.
Methodology
The current research has focused on researches on thematic evolutions in the genetics area with a scientometric approach. As many as 79,593 articles on genetics on PubMed were analyzed over the base period (1909-2004) using Premap, Excel, and SPSS, while the figures are 40,184 and 97,512 for the five-year period (2005-2009) and ten-year period (2005-2014), respectively.
Findings
The findings revealed that growth rate for the number of articles on genetics has demonstrated an upward trend while genomics, proteomics, polymerase chain reaction (PCR) and pharmacogenetics have been the most active research fields in the area. Moreover, based on inclusion index, it has been demonstrated that evolution has been abundantly seen and new subjects were born in the genetics area on a daily basis.
Conclusion
It is a complicated process to discover conceptual relationships between the documents of a scientific area. Hence, the resulting conclusions naturally require a deep understanding. Quantitative approaches, despite having shortcomings and being unable to comprehensively analyze different aspects of the issue, are not entirely futile and inaccurate. But they can enable the policymakers to acquire a general knowledge of the current situation so that they can make more realistic decisions and operate more efficiently. Continuance of such researches, aimed at assessing a discipline, will eventually empower the managers in those disciplines and scientific areas
Hadis Ahmadirad , Mohammad Reza Hajizadeh Hajizadeh , Mehdi Mahmoodi , Mohamadreza Mirzaee , Fahime Mohammadain Shahrbabaki , Mostafa Soltaninejad ,
Volume 25, Issue 7 (10-2017)
Abstract
Background: Breast cancer is one of the most common cancers among women. Incorrect pattern of gene expression involved in epigenetic Including APOBEC3B, DNMT-1 and TET_1 can develop breast cancer.
resveratrol is a natural flavonoids that antioxidant and anti-cancer properties have been reported in other studies. To investigate the mechanism of effect of resveratrol, this study examined effect of resveratrol on the expression of genes referred to the two classes of breast cancer cell lines
Materials and methods: cell lines, including MCF-7 and MDA-MB-453 in separate boxes including the control group and treated groups with two doses of two doses of 25 and 100 micro molar for 24 hours of resveratrol for were cultured. RNA was extracted from the cells and then converted to cDNA. realtime PCR were used for APOBEC3B and DNMT and TET_1expression.
Results: The results showed that resveratrol decrease in gene expression APOBEC3B and DNMT-1 And increased expression of TET_1 in both of cell lines. .
Discussion: due to satisfactory effects of resveratrol has on breast cancer cells, probably these effects through epigenetic mechanisms applied. However, the final decision needs to be further investigation.
Fatemeh Jafari, Seyed Mohsen Miresmaeili, Seyed Mehdi Kalantar ,
Volume 27, Issue 8 (12-2019)
Abstract
Introduction: Polycystic ovarian syndrome (PCOS) is known as a metabolic, reproductive and ovarian degeneration disorder. Pro12 Ala mutation in peroxisome proliferator-activated receptor gamma (PPARγ) gene as a transcription factor is linked to disorder of glucose and infertility. In the patients with type 2 diabetes and polycystic ovary syndrome, metformin is the recommended first-line treatment. The aim of this study was evaluation of pharmacokinetics of metformin and the patients genotype for Pro12 Ala polymorphism.
Methods: In this study, 100 women with PCOS and 100 healthy women were evaluated. Plasma levels of the FSH and LH were evaluated before and after metformin consumption in the patients.The Pro12 Ala polymorphism was detected by PCR-RFLP analysis.
Results: Two patients carried GG homozygous recessive. There was no significant difference in genotypes between the healthy and patient women. There was a significant difference in plasma levels of LH, FSH and testosterone before and after treatment with metformin but there was no relationship between genotype and response to metformin (p-value = 0.59).
Conclusion: Considering to this research, there is no relationship between Pro12 Ala polymorphism and metformin response in the patients, but the response to metformin for the regulation and improvement ovulation hormones in many patients is satisfactory.
Majid Aflatoonian,
Volume 28, Issue 3 (6-2020)
Abstract
Introduction: Celiac disease is an autoimmune disease caused by persistent intolerance to gluten, which is causedin people who are genetically predisposed. The disease presents with atrophy of the small intestinal mucosa and gastrointestinal and extra-gastrointestinal manifestations.Environmental factors like gluten and genetic factors such as HLA and non-HLA genes are involved in causing the disease.Mucosal atrophy results from an adaptive and innate immune response to gluten.
T-helper, interleukin 15 and tumor necrosisfactor-alpha have a central role in this process. Recognize the risk of genetic factors and inflammatorymechanisms will help diagnose and treat the disease.
Behnaz Mirza Ahmadi, Mahmood Talkhabi, Sarah Rajabi,
Volume 28, Issue 11 (1-2021)
Abstract
Introduction: Skeletal muscles account for about 40% of the total body weight. Every year, hundreds of people lose at least part of their muscle tissue due to illness, war, and accidents. This can lead to disruption of activities such as breathing, movement, and social life. To this end, various therapeutic strategies such as medication therapy, cell therapy and tissue transplantation have been used or studied in muscle regeneration. However, there is no effective and well-defined clinical approach for treatment of muscle injuries and the severity of muscle injuries increase with age in most cases. Therefore, investigation for finding new and effective clinical approach for muscle regeneration is one of the most important issues in basic and clinical researches. Tissue engineering is considered as one of the promising and newest approach for skeletal muscle tissue regeneration and provides an appropriate model for personalized medicine and basic researches that can be used in personalized medicine and basic research. Besides biomaterials and cells, inducing factors are another element of tissue engineering. These factors influence epigenetic mechanisms and signaling pathway, thereby inducing proliferation, differentiation, and migration of cells used in muscle tissue engineering, and accelerates muscle formation in vitro. Recently, small molecules have been used as alternatives to growth factors or along with other inducing factors in muscle tissue engineering. Since they do not induce an immune reaction, penetrate easily to the cells and have a specific molecular target, therefore they have attracted much attention as the cost-effective inducing factors in tissue engineering.
Conclusion: Taken together, the effective small molecules in muscle tissue engineering can be used with different biomaterial conditions (e.g. hydrogel, decellularized tissue, and synthetic scaffolds) in both in vivo and in vitro, resulting to production of cost effective and highly efficient engineered muscle tissues that help to achieve therapeutical goals of muscle tissue engineering. Herein, we describe tissue engineering and review the small molecules used in skeletal muscle tissue engineering.
Maryam Parhamfar, Marzieh Rezaei,
Volume 29, Issue 5 (8-2021)
Abstract
Introduction: Epigenetic mechanisms regulate expression of the genome to generate various cell types during development or coordinate cellular responses to external stimulus. While epigenetics is of fundamental importance in eukaryotes, it plays a different role in bacteria. This article uncovers the most important recent data on how bacteria can alter epigenetic marks and can also contribute to and/or result to various diseases.
In this review article, Sciencedirect, PubMed, Scopus, Google Scholar databases were used for finding the relevant studies.
Research has shown that bacteria can affect the chromatin structure and transcriptional program of host cells by influencing diverse epigenetic factors (i.e., histone modifications, DNA methylation, chromatin-associated complexes, and RNA splicing factors). Therefore, bacterial-induced epigenetic deregulations may affect host cell function either to host defense or to allow pathogen persistence. Hence, pathogenic bacteria can be considered as potential epimutagens able to reshape the epigenome that their effects might leading to cellular dysfunctions, which influenced immunity and might be at the origin of unexplained diseases and this caused presentation or contributed to the development of pathological changes.
Conclusion: Epigenetic modifications during development and in response to environmental factors contribute to phenotypic variability and susceptibility to a number of diseases, including infectious diseases, cancers, metabolic and autoimmune disorders.
Khalil Khashei Varnamkhasti,
Volume 29, Issue 6 (9-2021)
Abstract
Introduction: Predisposition to cerebral venous thrombosis (CVT) also has a genetic basis and inherited thrombophilias constitute 22.4 % of the CVT cases. CVT with a varied clinical presentation and pathogenesis is one of the important causes of stroke which is not very common. Inherited thrombophilias with concomitant acquired risk factors like pregnancy may increase the risk of CVT manifold. Identification of a number of genetic variants increasing susceptibility to CVT and related traits opened up opportunity, to screening of women at high risk of developing obstetric CVT.
Khalil Khashei Varnamkhasti,
Volume 29, Issue 7 (10-2021)
Abstract
Introduction: Hydatidiform mole is an abnormal pregnancy characterized by hyper-proliferation of trophoblastic cells (both cytotrophoblast and syncytiotrophoblast). If the proliferation phenomenon not well controlled, e.g. due to poor medical health care system, mole can become invasive and lead to gestational choriocarcinomas. Gestational choriocarcinoma by strong metastatic potentiality, as one of the most aggressive, malignant form of gestational trophoblastic disease, could be spread through directly vascular and the middle layer of the uterine wall (Myometrium) and would involve distant sites such as the lungs, spleen, intestines, kidney, and liver. When a hydatidiform mole occurs once, it is known as sporadic hydatidiform mole; if it happens again, the condition is known as recurrent hydatidiform mole. In recurrent form, the gestational choriocarcinoma occurrence risk increased up to a 100-fold. Therefore, early onset identify of susceptible women to recurrent molar pregnancy is clinical importance because of the increased risk of developing neoplasia. Due to the role of maternal homozygous and compound heterozygous recessive gene, mutations have been reported in hydatidiform mole occurrence, women screening can be improved by molecular genotyping methods.
Masoumeh Dehghan Manshadi, Ahoura Arasteh Kani, Mansoureh Akouchekian,
Volume 33, Issue 1 (4-2025)
Abstract
Introduction: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder that impacts social interactions, communication, and behaviors, frequently recognized during early childhood. ASD is defined as a spectrum, displaying diverse symptoms regarding type and intensity, shaped by both genetic and environmental influences. Infertility, defined as the failure to conceive after one year of regular unprotected intercourse, can also result from a range of genetic, physiological, and environmental factors. This study examined the association between infertility and ASD, and emphasizing common genetic mechanisms—such as copy number variations (CNVs) and genetic variants—that might influence the occurrence of both conditions.
Additionally, factors like the age of parents, exposure to environmental toxins, and the application of assisted reproductive technologies (ART) may raise the likelihood of both ASD and infertility. In particular, older paternal age has been associated with an increased probability of new genetic mutations in sperm, which could play a role in ASD in offspring. Research findings suggested that epigenetic changes, including DNA methylation and histone modifications, might clarify the role of genetic and environmental factors in these disorders. Preliminary studies indicated that children conceived through ART may face a higher likelihood of developing ASD.
Conclusion: Despite advancements, significant gaps remain in fully understanding these associations, necessitating further research. A deeper comprehension of these links could support the development of targeted interventions, genetic counseling, and improved quality of life for affected individuals and their families.
