genetics
SAEED PIRMORADI
Volume 30, Issue 1 , May and June 2023, , Pages 35-50
Abstract
Introduction: Autism is a set of environmental and genetic disorders in the nervous system that result in defects in social behaviors, social communication, stereotyped behaviors and difficulty in motor skills and inability to plan motor. These factors are the severity of the disease and how affect its ...
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Introduction: Autism is a set of environmental and genetic disorders in the nervous system that result in defects in social behaviors, social communication, stereotyped behaviors and difficulty in motor skills and inability to plan motor. These factors are the severity of the disease and how affect its response to treatment.Materials and Methods: In this study, we sought to identify a common list of different genes expressed (DEG) using a meta-analysis method by bioinformatics tools. Three microwave studies were identified, including 109 samples, of which 90 were sick and 19 were healthy. These studies were analyzed by software and meta-analysis was performed on them.Results: After isolation of genes with different expression with the help of statistical analysis by R software, genes (EIF1AY, EIF2S3, IL32, ARPC4-TTLL3, LILRA5, EIF5A, XIST, RARA, TXLNG,) were obtained and then by examining their gene ontology from the final results were obtained through the enrichr database and the association of their interaction pathways with pathways and interaction networks with other genes involved in autism.Conclusion: By identifying genes with different expression in different studies that had a significant decrease or increase in expression and examining them in biological, molecular and cellular pathways in general, it was found that this set of genes can be used in autism and some pathways in the functional process. This disease has a role, so it is possible to provide desirable treatment strategies to control them by examining the targets of their effects and products.
genetics
Helmah Kargar; Maryam Peymani
Volume 29, Issue 3 , September and October 2022, , Pages 318-329
Abstract
Background: Changes in the SET1B gene expression, can directly affect the incidence and progression of cancer. The gene encoding lncRNA LIMT is transcribed as antisense in the opposite direction to SET1B. The aim of this study was to investigate the expression of lncRNA LIMT and SETD1B in ...
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Background: Changes in the SET1B gene expression, can directly affect the incidence and progression of cancer. The gene encoding lncRNA LIMT is transcribed as antisense in the opposite direction to SET1B. The aim of this study was to investigate the expression of lncRNA LIMT and SETD1B in tumor tissues compared to adjacent normal in colorectal cancer and the relation between these two genes is related to the clinical features of tumor tissues.
Materials and methods: After collecting 40 tumor and adjacent normal tissues, Total RNA extraction and cDNA synthesis were performed. Then the expression levels of the desired genes in tumor and normal tissues was compared. Finally, the obtained results were statistically analyzed by Prism software.
Results: The expression level of SETD1B increased 1.8 fold changes in tumor samples (p = 0.01103) while the expression level of lncRNA LIMT in tumor tissue did not change significantly compared to normal tissue (p = 0.5391). In addition, the expression levels of SET1B and lncRNA LIMT in the two age groups over 60 years and under 60 years in tumor tissues did not change significantly. ROC analysis also showed that SETD1B with AUC = 0.336 and CI = 0.8771 - 0.9902 can separate the patient population from the healthy and can help diagnose colorectal cancer.
Conclusion: According to the results of this study, it can be said that SETD1B is increased in tumor tissue and can be used as a biomarker for colorectal cancer.
genetics
Atefeh Hassanzadeh; aliakbar jannatabadi; Abolfazl Rad
Volume 28, Issue 3 , May and June 2021, , Pages 373-378
Abstract
Introduction: Sjogren-Larsson Syndrome (SLS) is a recurrent autosomal recessive disorder characterized by three main symptoms including ichthyosis, mental retardation, dysplasia, or spastic tetraplegia. However, other symptoms such as cognitive deficits, delayed speech and seizures were frequently observed. ...
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Introduction: Sjogren-Larsson Syndrome (SLS) is a recurrent autosomal recessive disorder characterized by three main symptoms including ichthyosis, mental retardation, dysplasia, or spastic tetraplegia. However, other symptoms such as cognitive deficits, delayed speech and seizures were frequently observed. Because of these overlap symptoms, these syndromes are categorized as unknown and rare disease. High-through put technologies such as whole exome sequencing (WES) solved many of these unknown diseases. In this study, we used WES and introduced a family with SLS from Sabzevar – Khorasane Razavi- Iran. Materials and Methods: Using WES, we sequenced all exons and then analyzed the annotation file. We segregated variant in other family members to confirm the candidate gene using PCR and Sanger sequencing. Results: Our data showed that mutation in ALDH3A2 with c.943C>T pathogenic variant causes SLS syndrome in this family. Conclusion: The advent of WES improve the ability of diagnosis in a huge number of syndromes with overlap symptoms. Nonetheless, most of syndromes do not have a specific treatment and recognizing the cause of syndromes help to families to screen during pregnancies.
genetics
Nazila Valatabar; Reza Safaralizadeh; Mohammadali Hosseinpour-Feizi
Volume 27, Issue 6 , January and February 2021, , Pages 770-775
Abstract
Introduction: Allergic rhinitis is a more prevalent health disorder in all regions of the world. In recent years, the study on Allergic rhinitis because of its higher prevalence and its effect on development of asthma have been more attended. In this article specifically reviews Singlenucleotide polymorphism ...
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Introduction: Allergic rhinitis is a more prevalent health disorder in all regions of the world. In recent years, the study on Allergic rhinitis because of its higher prevalence and its effect on development of asthma have been more attended. In this article specifically reviews Singlenucleotide polymorphism studies in allergic rhinitis disease.
Materials and Methods: In this study, the results of previous research conducted between 2005 and 2020 in the field of genetic susceptibility to allergic rhinitis have been used. Articles were collected by searching keywords Allergic rhinitis, genetic polymorphisms, single nucleotide polymorphism in the databases Scopus, Google Scholar, PubMed, Science Direct.
Results: In these studies, the candidate genes and the variants of single nucleotide polymorphism associated with allergic rhinitis have been investigated. The data collected in this study are the result of studies conducted in different parts of the world. The population of studies in these articles were allergic rhinitis patients.
Conclusion: Results showed association of several SNPs of various genes in allergic rhinitis that some of them may be useful incomprehension of AR pathophysiology finding new procedures for allergic rhinitis immunotherapy
genetics
Reyhaneh Ravanbakhsh Gavgani; Esmaeil Babaei; Mohammad Ali Hosseinpourfeizi; Vahid Montazeri
Volume 26, Issue 3 , September and October 2019, , Pages 285-292
Abstract
Introduction: Breast cancer is the most common tumor malignancy among women worldwide. Studies have revealed new class of RNA molecules named Long non-coding RNAs that play important role in tumor development, progression and metastasis. Therefore, this study aimed to evaluate long non-coding RNA lncUSMycN ...
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Introduction: Breast cancer is the most common tumor malignancy among women worldwide. Studies have revealed new class of RNA molecules named Long non-coding RNAs that play important role in tumor development, progression and metastasis. Therefore, this study aimed to evaluate long non-coding RNA lncUSMycN expression in breast cancer. Methods: In this study, 40 breast tumor with invasive ductal carcinoma and 40 normal marginal tissues were collected and after RNA extraction using TRizol kit, cDNA was synthesized. Expression level of lncUSMycN was obtained by applying qRT-PCR method. In order to evaluate association of lncUSMycN expression in tumor compared to normal tissues REST software was used. Biomarker potential of lncUSMycN was evaluated by drawing ROC curve using SigmaPlot. In addition, relationship between lncUSMycN expression and clinicopathological features was analysed. Results: Results from REST indicated significant upregulation of lncUSMycN in tumor tissues compared to normal marginal specimens (95% CI, p =0.001). ROC curve analysis demonstrated the biomarker potential of lncUSMycN (ROCAUC =0.72, p=0.0006). Evaluation of the relationship between lncUSMycN expression and clinicopathological features revealed that there are significant association between lncUSMycN expression and early stages (95% CI, P=0.005) and well-differentiated tumors (95% CI, P=0.046).Conclusion: Considering upregulation of lncUSMycN expression in invasive ductal carcinoma this lncRNA may be probably considered as a new potential diagnostic biomarker for breast cancer.
genetics
Abolfazl Adli; Solmaz kholdi; Mohammadreza Behroozikhah; Mohammadmehdi Forghanifard
Volume 25, Issue 6 , November and December 2018, , Pages 895-902
Abstract
Introduction: Breast cancer is one of the main cause of death in women in the world. This cancer is heterogeneous and there are three types including LCIS ،(Lobular carcinoma in situ) ،(Ductal carcinoma in situ) DCIS and carcinoma. Although there are chemotherapy and surgery for its treatment, the ...
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Introduction: Breast cancer is one of the main cause of death in women in the world. This cancer is heterogeneous and there are three types including LCIS ،(Lobular carcinoma in situ) ،(Ductal carcinoma in situ) DCIS and carcinoma. Although there are chemotherapy and surgery for its treatment, the molecular mechanism help to diagnosis in the first stage. In this study we aimed to show the expression of CDX1 and CDX2 in breast cancer.Materials and methods:In this study, total RNA was extracted from 40 tumor and 40 normal tissues using RNA extraction kit. After cDNA synthesis with Takara cDNA synthesis kit, expressional analysis of CDX1 and CDX2 gene was evaluated by Real time PCR techniques.Results:Our data showed the expression of CDX1 and CDX2 gene were decreased in this cancer, 50 and 45 percent, respectively. Also our statistical analysis demonstrated the underexpression of CDX1 is correlated with tumor size.Discussion: To the best our knowledge, this is the first study that shows the expression of these gene were reduced in breast cancer. We suggest that these genes have tumor suppressor role in breast cancer and it require more studies to show the main mechanism of these genes in breast cancer
genetics
Farzaneh Khodabandeh; Reyhane Alishahi; Fatemeh Yahyavi Koochaksaraei
Volume 25, Issue 4 , September and October 2018, , Pages 518-527
Abstract
Background and Aim: Mucopolysaccharidosis type I (MPS I) is a rare and highly progressive autosomal recessive, genetically-metabolic disorder that results of the mutation in the gene responsible for the production of Alpha-L-Iduronidase enzyme, which ultimately leads to destruction and cell death of ...
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Background and Aim: Mucopolysaccharidosis type I (MPS I) is a rare and highly progressive autosomal recessive, genetically-metabolic disorder that results of the mutation in the gene responsible for the production of Alpha-L-Iduronidase enzyme, which ultimately leads to destruction and cell death of tissues. The patient is asymptomatic at the time of birth, but few months after birth, symptoms gradually appear in the person's phenotype. Respiratory, skeletal, neurological, cardiac, gastrointestinal and ocular disorders are obvious in these patients. The purpose of this study is reporting a case of MPS I.Patient introduction: The patient is a 7 years old boy, repeatedly admitted to the Heshmatieh Hospital of Sabzevar University of Medical Sciences, due to a weak immune system, high fever, and complications of his MPS genetic disease. At 2.5 years old, MPS had been definitively diagnosed.Conclusion: In this patient, almost all symptoms of the Hurler syndrome including third tonsil, hepatomegaly, splenomegaly, large skull, large tongue, ocular corneal opacity, and the presence of yellow spots in sclera, spinal deviation, Umbilical hernia, hearing loss and the stenosis of the mitral valve was seen. Unfortunately, due to the lack of definitive treatment, only 20% of the patients have a chance of survival and recovery. MPS usually leads in death before the age of 20.
genetics
nafise moeinifar; sadeq vallian
Volume 25, Issue 3 , July and August 2018, , Pages 335-341
Abstract
AbstractBackground: Congenital myasthenic syndromes (CMS) recognized as heterogeneous disorders arising from presynaptic, synaptic, or postsynaptic defects. Congenital myasthenic syndrome due to defects in synaptic activity of the acetylcholinesterase enzyme (AChE) is caused by recessive mutations in ...
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AbstractBackground: Congenital myasthenic syndromes (CMS) recognized as heterogeneous disorders arising from presynaptic, synaptic, or postsynaptic defects. Congenital myasthenic syndrome due to defects in synaptic activity of the acetylcholinesterase enzyme (AChE) is caused by recessive mutations in the COLQ gene. Ideal method for molecular diagnosis of this disease is direct analysis of the gene mutations, which is expensive and time consuming. Therefore, alternative methods such as linkage analysis using polymorphic markers including single nucleotide polymorphism (SNP) is suggested.Materials and Methods: In this study, using bioinformatic analysis, rs2278961 marker located on 3'UTR of COLQ gene was selected which contains 2 alleles G and A. rs2278961 marker was genotyped in the Isfahan population by ARMS PCR technique, using specific primers. Degree of heterozygosity and allelic frequencies were calculated by Genepop software. Finally, the amount of polymorphism information content (PIC) was computed by PIC Calculator software.Results: According to the results of Genepop and PIC Calculator, the frequency of recessive allele A (MAF), the degree of heterozygosity and the PIC were estimated 0.539, 0.61842105 and 0.3735, respectively.Conclusion: Since the MAF>0.2 and PIC close to 0.375 are the criteria for an efficient marker, rs2278961 having mentioned conditions, therefore it could be suggested as an appropriate markers for diagnosis of CMS disease in Iranian population.
genetics
nasser pouladi; mohammadali hosseinpourfeizi
Volume 25, Issue 3 , July and August 2018, , Pages 399-407
Abstract
Background: Thyroid cancer is the most common malignant endocrine tumor, and the incidence was rising worldwide over the last three decades. TP53 is one of the most important tumor suppressor genes in the genome, and its mutations are found in approximately 50% of human cancers. It plays pivotal roles ...
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Background: Thyroid cancer is the most common malignant endocrine tumor, and the incidence was rising worldwide over the last three decades. TP53 is one of the most important tumor suppressor genes in the genome, and its mutations are found in approximately 50% of human cancers. It plays pivotal roles in the regulation of cell cycle arrest and apoptosis. The aim of this study was to analyze TP53 gene mutations among thyroid cancer patients in East- Azerbaijan. Material and Methods: 40 tumor samples have been collected from thyroid cancer patients from Tabriz hospitals between 2007-2009. DNA was extracted by Proteinase K – Iso propanol method and then the mutations in p53 gene from exon5 to exon8, were detected by Polymarase Chain Reactions (PCR) and direct sequencing techniques.Results: Alterations in the p53 gene were detected in 12.5% of the patients, including single nucleotide polymorphisms and mutations, including codon216 (GTG>GTA), codon215 (AGT>ATT) and codon273 (CGT>CAT) mutations (each mutation in one of the cases) and two linked polymorphisms 14181C>T and 14201T>G (in two cases).Conclusion: This result helps us to clarify p53 mutation status among Azerbaijani thyroid cancer patients.
genetics
Shamim Ashrafi; farzaneh Tafvizi
Volume 25, Issue 2 , May and June 2018, , Pages 311-319
Abstract
Background: Unexplained infertility refers to cases in which the standard diagnostic procedures available do not lead to a specific cause for the infertility. Gln223Arg polymorphism was associated with high serum leptin and consequently obesity, polycystic ovarian syndrome and infertility. The aim of ...
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Background: Unexplained infertility refers to cases in which the standard diagnostic procedures available do not lead to a specific cause for the infertility. Gln223Arg polymorphism was associated with high serum leptin and consequently obesity, polycystic ovarian syndrome and infertility. The aim of this study was to investigate genetic variation of leptin receptor gene in unexplained infertile women. Materials and Methods: This case-control study was performed in 2015-2016. The subjects were 102 women with unexplained infertility and 112 fertile women with normal hormone profile. All participants gave their signature in consent document. After an overnight fasting, 5 CC blood sample was drawn from all subjects in the day 3 of menstruation. Genotyping of Gln223Arg polymorphism was performed using RFLP-PCR technique. Results: No significant association was observed between Gln223Arg polymorphism and unexplained infertility. The studied population was in Hardy-Weinberg equilibrium for Gln223Arg polymorphism. Therefore, there were not disturbing factors of Hardy-Weinberg equilibrium in the population. Conclusion: In present study, LEPR Gln223Arg polymorphism is not a risk factor for women with unexplained infertility. However, more studies on larger populations and the other leptin receptor polymorphism are suggested to understand the role of this polymorphism in women with unexplained infertility.
genetics
Sonia Faridi; Narges Zeinal zadeh
Volume 25, Issue 2 , May and June 2018, , Pages 259-269
Abstract
Background and objective: Breast cancer is one of the main causes of death among Iranian women. Human RAD51 protein, play a central role in homologous recombination repair of double-stranded DNA breaks and is essential for maintaining genomic stability. A single nucleotide polymorphism in the 5′-untranslated ...
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Background and objective: Breast cancer is one of the main causes of death among Iranian women. Human RAD51 protein, play a central role in homologous recombination repair of double-stranded DNA breaks and is essential for maintaining genomic stability. A single nucleotide polymorphism in the 5′-untranslated region of RAD51 gene (RAD51 135G˃C) is reported to modulate breast cancer risk. The aim of this study was to find out the relationship of this SNP with breast cancer risk among Iranian Azeri Turkish women.Materials and methods: This case-control study was performed on 127 breast cancer cases and 125 controls. Genomic DNA was extracted and the RAD51 135G > C genotype was determined using a PCR–Restriction Fragment Length Polymorphism (RFLP) based assay and confirmed by sequencing. The results were analyzed statistically. Results: The frequencies of CC, CG and GG genotypes of RAD51 135G˃C were 1.613%, 20.161% and 78.225% in control group and 2.362%, 24.409% and 73.228% in patients, respectively. The results showed no significant differences among patients and controls groups.Conclusion: The data presented here may suggest that the RAD51 135G > C polymorphism is not associated with breast cancer risk in Iranian Azeri population.
genetics
sara rafiee; dor mohammad kordi tamandani
Volume 24, Issue 6 , March and April 2018, , Pages 103-109
Abstract
IUGR is a major causes and silent illness and death in the embryonic and infants population, which in it infants growth potential is less than natural state. IUGR phrase and small for gestation age often used interchangeably; Although there is small difference between these two. IUGR/SGA as a result ...
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IUGR is a major causes and silent illness and death in the embryonic and infants population, which in it infants growth potential is less than natural state. IUGR phrase and small for gestation age often used interchangeably; Although there is small difference between these two. IUGR/SGA as a result different etiology including maternal factors, placenta and fetus arise. That recently genetic factors added to it. IUGR may be caused by maternal smoking, infections agents and chromosomal or genetic abnormalities, maternal abnormalities, but in most cases secondary cause is placenta insufficiency. IUGR often causes complications in the third trimester of pregnancy which is associated with symptoms of preeclampsia. the Pathophysiology of IUGR is associated with placenta insufficiency it remains unclear, but the damage is usually caused due to failure of trophoblast invasion which causes intermittent blood flow the space between the intervillous that this also in turn causes local oxidative stress.