ژنتیک

Enzymes have been used experimentally in the preparation of fermented, food, and medicinal products since mankind started a regular life in the form of early civilizations, without any information about their nature being available. It has been more than a century since scientists have obtained information about the enzymatic reactions and the enzyme structure, and a newer and more practical attitude towards them is obtained day by day. Today, these proteins play roles as biomarkers in the diagnosis, monitoring and treatment of diseases. Enzymes roles as receptor for some hormones and their qualitative and quantitative changes interfering in the onset of some diseases such as diabetes have been known. In addition, they are used as accurate and specific tools in the assay of some biochemical analytes, phenotypic identification of bacteria and biosensor design. The basis of the mechanism of some drugs is enzyme inhibition. Meanwhile, some enzymes are directly used as drugs. The enzymes are applied in some immunoassay techniques, genetics and proteomics laboratory methods. In modern biotechnology, enzymes are used to produce plenty of products. This review article aimed to take a new, updated and comprehensive approach to several roles that enzymes play in various fields from diagnosis, monitoring and treatment of diseases to their application in medical, genetics and proteomics laboratory methods.

Gender dysphoria is a general description that refers to a person's dissatisfaction with their assigned gender. People suffering from gender dysphoria always suffer psychologically and emotionally, so that they have a higher suicide rate. These cases can emphasize the need for more research in this regard. The mechanisms of this disease are not well known so far, but several factors such as biological, psychological, environmental and social can be effective in it. The aim of this study is to investigate the role of genetic factors in the development of this disease. This study was a Narrative review. Twin and heritability studies have shown the influence of genetic factors on the development of gender dysphoria. Metabolic disorders such as congenital adrenal hyperplasia and adrenogenital syndrome and any genetic changes in the genes that control the secretion of androgens can be related to this disorder. According to the study, although the cause and mechanism of gender dysphoria remain unknown, the role of genetic factors in causing this disorder cannot be ignored. The creation of gender dysphoria is associated with the neurodevelopmental processes of the brain, as a result of genetic changes in the CYP21A2, CYP17 genes, as well as other genes involved in the secretion of androgens, can be one of the causes of this disorder. This study emphasizes the importance of genetic studies regarding the investigation of the cause and mechanism of gender dysphoria in future studies.

Virtually all deaths in young patients with advanced skin tumors are caused by melanoma. Today, thanks to modern treatments, these patients survive longer or can even be cured. Advanced melanoma is often associated with a poor prognosis, and physicians continue to believe that the disease is difficult to treat due to the lack of durable response to initial treatment regimens and the lack of randomized clinical trials in the post-immunotherapy/targeted molecular therapy setting. New therapeutic targets are emerging based on preclinical data on the genetic profile of melanocytes and the identification of molecular factors involved in the pathogenesis of malignant transformations. In this article, we present the challenges of diagnosis, molecular biology and genetics of malignant melanoma, as well as current treatment options for patients with this diagnosis.

Gastric cancer, a significant global health concern, presents unique challenges when it occurs within families due to potential genetic predisposition. This article presents a case series of three gastric cancer cases in a family and discusses their clinical characteristics, management, and outcomes. The first case involved a 35-year-old female patient who underwent surgery with no recurrence during follow-up. The second case, her younger brother, experienced recurrence and post-op complication leading to death. The third case, their mother, presented with metastatic gastric cancer. The article emphasizes the rarity of hereditary gastric cancer and the need for further research and guidelines in its diagnosis and treatment. Genetic testing's role in identifying familial gastric cancer remains uncertain but warrants improvement in disease management, family monitoring, and preventive interventions.

Hypertension is a global health challenge due to its high prevalence and increased risk of cardiovascular disease. It is a multifactorial disease in which both genetic and environmental factors are involved. So far, a number of genes and pathways have been proposed to be associated with HTN, including the nitric oxide/cGMP pathway. To further clarify the role of NO /cGMP in the pathogenesis of HTN and also to find genetic determinants of predisposition to HTN in Kermanshah province, Iran, we aimed to investigate the association between three key points in nitric oxide signaling pathway, namely eNOS, GUCY1A3, and PDE1A genes, and susceptibility to hypertension.

In this case-control study, a total of 130 patients and 110 healthy subjects were enrolled. Three polymorphisms (rs1799983 in eNOS gene, rs13139571 in GUCY1A3 genes and rs16823124 in PDE1A gene) were investigated by PCR-RFLP method. Data were then statistically analyzed.

This study showed a significant association between the genotypic and allelic frequencies of the rs1799983 polymorphism in the eNOS gene and the rs13139571 gene in GUCY1A3 (P<0.05), while there was no significant association with PDE1A (P>0.05). However, the interaction with the other two SNPs may confer susceptibility to hypertension.

Mendelian randomization (MR) is a new generation in the statistical method that uses genetic variants as instrumental variables in data from non-experimental studies to evaluate and estimate the causal effects of risk factors.

The weakness of observational studies to detect causality, the difficulties of conducting clinical trials, the dramatic advancement of Genome-Wide Association Studies (GWAS) have led to the emergence of a new type of study called MR. It is increasingly being used to determine causality MR is an approach based on meta-analysis methods. The main idea of the MR is based on using the instrument variable (IV) to find the causality between exposure and outcome. This variable does not need to adjust the confounding effects found in observational studies.

Data for this study were collected from the beginning of January 2003 to October 2020 in PubMed. Our results showed that MR has an increasing trend. The data used in MR includes summarized statistical data, individual-level data, and meta-analysis. Choosing the suitable IV is essential to successfully conduct an MR. For an unbiased estimate, three main hypotheses should be considered: 1) The IV has a strong relationship with the desired exposure (i.e., potential risk factor), 2) The IV is not related to the confounding variable, and 3) The IV is not directly related to the outcome and should only relate to the outcome through exposure. If these conditions are not met, one solution is to use robust methods. Besides, this research introduced the study designs, estimation methods, limitations, software packages, and some applications of MR in medical research.

When we seek to find a causal relationship, but it is not possible to use a clinical trial as a standard method, the MR design can be used in observational studies. Therefore, it is possible to obtain causal relationships between exposure and outcome using the MR.

Vaspin is a novel adipocytokine. Various studies have shown that vaspin is associated with many types of cancer. This study aims to determine the association of vaspin rs2236242 gene polymorphism with vaspin level in women with papillary thyroid cancer (PTC) and Multinodular goiter (MNG).

In this case-control study participants were 134 women. They were divided into three groups; PTC (n=49), MNG (n=30) and control (n=55). Ten milliliter peripheral blood samples were taken from participants, 5 ml was used for DNA extraction and 5 ml for   preparation of serum. The vaspin level was measured by Sandwich ELISA kit. The genotype determination of vaspin rs2236242 polymorphism was done using the tetra primer-amplification refractory mutation system/polymerase chain reaction method.

There were no significant difference in serum vaspin level among the three groups. There was no significant association between genotypes of vaspin rs2236242 polymorphism and serum vaspin level in any groups. Logistic regression analysis showed that the difference in the frequency of the genotypes of rs2236242 polymorphism in the MNG group was significant compared to the control group. The TA genotype showed a protective effect against PTC and MNG (P<0.05). 

There is no significant difference in vaspin level between PTC, MNG and control groups. There is no association between rs2236242 gene polymorphism and serum vaspin level. The TA genotype of rs2236242 has a protective effect against MNG.

Recently, many researches have attempted to relationship neuroscience to genetics and epigenetics. In the last few decades, the study of behavioral genetics has been of interest to scientists. On the other hand, many developments have been made in the field of genetics, and in subjects such as behavioral genetics, neuroscience genetics, and psychiatric genetics, that have been remarkable. Health is an issue that has received a lot of research today. Spiritual health is one of the most vital components of health. Attention to the spiritual dimension can have a great effect on achieving general health, so that spirituality is one of the aspects of human beings in holistic care, which plays an important role in well-being and health. Researches has shown that spirituality not only affects people's moods and mental health, but also improves their physical condition. Recently, many studies have been published on the role of heredity and genetics in spirituality and religious tendencies. Given that genetics in the field of human behavior has grown a lot and religious tendencies and spirituality as one of the dimensions of human behavior can have a genetic origin. The events such as emotional personality, sudden irritability, excitability, excitement, extremism in speech and action, adventurism, disorder, and the feeling of being free from all restraints have a genetic origin. The purpose of this study is to review the investigations that shows the relationship between genetics and spiritual health. Therefore, these genes and their biochemical pathways have a significant effect on spiritual health.

Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders and causes 75% of infertility due to ovulation disorders in reproductive age. Women with PCOS have oligomenorrhea and hyperandrogenism that affect their quality of life and fertility at the same time. This syndrome has been one of the most controversial endocrine issues for many years. Research today suggests that PCOS is an inherited disease and that genes are involved in transmission to the next generation. The results of this study, which was performed on thousands of women around the world, show that the expression of some genes has changed. The genes that have been studied are responsible for the synthesis and regulation of steroid hormones, the regulation of gonadotropins, and the synthesis and function of insulin. Although the underlying cause of pathogenesis is not yet known, there is evidence for the role of genetic factors, lifestyle, nutrition, and environmental pollution in the development of the disease. Therefore, it is hoped that the treatment of this heterogeneous syndrome will improve with the help of personalized medicine. Further studies are needed to determine the association between the various factors that may play an active pathogenic role in PCOS.

Cardiovascular diseases are the leading cause of mortality each year. Both environmental and genetic risk factors significantly influence the incidence and progression of these diseases. In recent decades, with the development of genetics and genome-determining tools, different genes have been found associated with numerous diseases. Determining these genes helps us to suggest a more effective treatment, specifically for each individual. Determining the genes involved in each disease, finding them in patients, and finally, treatment based on them are the main goals of personalized medicine. Another achievement of personalized medicine is determining the drug's efficiency and side effects in individuals. In particular, one of the most common drug side effects is bleeding from Warfarin. This complication can be prevented by accurately determining the required dose in each person. Personalized medicine is able to suggest the most appropriate dose by identifying genes involved in drug metabolism and detecting them in patients. In this review study, we examine the genes involved in cardiovascular disease as well as the drugs used in this field. Personalized medicine has a special role in determining the prognosis, risk factors and the most effective type of treatment for each disease. One of the main challenges in this field is finding precise diagnostic tools to find the most accurate gene and determine the patients who can benefit most from personalized medicine.

Alopecia areata (AA) is a sudden non-scarring hair loss that can be seen in any hairy area in the form of round or oval patches. It is an autoimmune disorder with an immunological response against hair follicles that is caused by genetic and environmental factors. The prevalence of AA is about 0.1% to 0.2% worldwide. Depending on the severity of the disease and sites of involvement, it can be divided into: Alopecia with Patchy pattern, alopecia reticularis, alopecia totalis, alopecia universalis, alopecia ophiasis, alopecia sisiapho, diffuse type and perinevoid alopecia areata. There are various treatment options for AA, but once terminated, they have a high recurrence rate. AA is known for the infiltration of T lymphocytes around the hair follicle bulb, and corticosteroids are its main treatment. Another treatment is topical immunotherapy, the most important of which is Diphenylcyclopropenone (DPCP). It is used in cases that have more than 50% hair loss or are resistant to treatment. The exact DPCP mechanism of action is not well understood, but it may have some kind of antigenic competition and reduce the production of anti-hair follicle antibodies. It can alter the immune response in the skin and alter the ratio of CD4 to CD8 cells around the hair follicle in a way that enhances healing of the disease. It is stated that the rate of hair regrowth in DPCP treatment is about 50% on average. In this article, we review the latest findings of about AA and discuss its therapeutic aspects, especially with DPCP.

Organisms, including humans, have an internal biological clock that helps them adjust to a regular circadian rhythm. The aim of this study was to investigate the existence of genetic changes in biological clocks in the search for information of different people and to draw a pattern for searching health information.

The present study was a fundamental applied type that performed by quasi-experimental method. The statistical population of the study consisted of 69 students who were selected by purposive sampling. Data were collected in two stages of completing the general health questionnaire, morning and evening sleep type and observing the behavior of completing search tasks and log analysis using images recorded from users in Camtasia studio software. Then, data analysis performed using log file analysis, chi-square and ANOVA tests.

The analysis of the subjectschr('39') search and retrieval behavior showed that these individuals have performed a total of 1574 strategies and techniques in the search process. The results showed that the highest frequency is related to the intermediate sleep group (65%). Also, 11.5% of users slept in the evening and 23% slept in the morning. People with nighttime sleep had better information search time in less time than others (P = 0.017).

None of the sleep types can affect the tests and cause cycles. Based on the genetic changes that occur, humans have different characteristics that create individual and functional differences, and therefore the range of individual differences is very wide.

The phenomenon of human genetic biotechnolo gy, which is done with the aim of repelling human evil, building a desirable society, and achieving important advances in human knowledge, is not prohibited in the basic jurisprudential propositions. But due to the tension of this human knowledge with huma n ethics and manners, its scope is not very clear and no integrated research has been conducted. Therefore, the question of the scope of the license to use this human knowledge needs to be explored until obtaining a proper answer. The present study aims to identify and study the permissible scope of human genome engineering.

The present article has been written in a descriptive - analytical method using library data, both real and virtual. In this way, first the views on the acceptance and non - acceptance of genetic engineering, as one of the emerging issues and secondary topics of dynamic Islamic jurisprudence are Planned and then analytically the possibility of accepting the view of doing it in the light of jurisprudential and rational arguments is reviewed and the scope of acceptance’s license of this knowledge is assessed based on the mentioned arguments.

Jurists and religious thinkers do not have the same approach to the phenomenon of human genetic biotechnology. But from the analysis of their documents in the framework of jurisprudential and rational arguments, it seems that the reasons for the followers of this human knowledge are more solid. Provided that in addition to not approaching the jurisprudential and rational bo undaries of loss, damage, reduction, etc., it occurs only in the sphere of productivity and conquest of the phenomena of existence and it is a role - playing tool for the creation to create the social welfare and comfort of human life and the liberation of d ivine creatures from the bottlenecks in the evolutionary path.

Human genome project in its general sense is a genetic project that with the genetic engineering of a human provides the possibility of any change in the human race, including genetic repair or improvement and even the production of a new human without the need for a father sperm. he does. Since the date of the beginning of genetic studies is not long, the issue of simulation is in the realm of emerging affairs. Ethical considerations actually address the moral barriers that may arise from the human genome. Therefore, the present study seeks to address these ethical points.

Descriptive-analytical method has been used to investigate the present issue, which is considered as a qualitative method. The present method examines the issue of human genome change by collecting information from texts and documentary sources in the field of ethics and medicine.

Human simulation needs to consider many ethical considerations from various aspects, including: lack of technical and medical security; Weakening of the family institution and violation of the principle of human dignity and damage to human lineage; Lack of personal identity and full psychological development; Creating a racist approach and creating a superior race; It includes the violation of human creation and the manipulation of God's work.

The rules and regulations related to simulation in Iranian law are ambiguous and have various dimensions that cannot provide strong legal support to support simulation. The only cases that can be seen are the rules related to inheritance of transportation, wills for transportation and acknowledgment in favor of transportation, from which results are extracted in the field of simulation. Therefore, from a legal point of view, we need clear rules about the personality and identity of the fetus and the simulation process. Establishing rules to clarify the mechanisms for using simulation technology is essential.

Coronaviruses are a large family of viruses that cause disease in humans and animals. Covid-19 is an acute respiratory infectious disease caused by a new coronavirus. The World Health Organization (WHO) has declared the infection a pandemic (global epidemic).

 The aim of this study is to investigate the latest research advances in genetics, disease, clinical features of Covid-19, as well as current therapies and scientific advances to combat this dangerous global epidemic.

The present paper is a review study developed using electronic sources in reputable databases such as PubMed, Scopus, Google Scholar, ISI, and Science Direct from 2010 to 2020.

Examining the genome and genetic studies of the virus, there are many similarities with members of the coronavirus family, but there are differences in their genomic and phenotypic structures that can affect their pathogenesis.Re-use of existing therapeutic drugs, previously designed for other infections and pathologies of viruses, is only a practical approach as a quick measure to respond to and fight the emerging epidemic. At present, tests for specific vaccines for the SARS-CoV-2 genome and the therapeutic antibodies being tested require a long-term process and require complete safety testing.

Ethical principles in writing this study have been observed in accordance with the guidelines of the National Ethics Committee and the COPE regulations.

Rapid diagnosis of SARS-CoV-2 infection is the basis of disease control. So far, there is no specific antiviral drug approved for SARS-CoV-2 infection. Therefore, preventive and inactive measures against the virus are necessary to stop and control the spread of the disease, according to genetic studies and the achievement of molecular mechanisms of virus function in pathogenesis.

MAO-A is an enzyme that breaks down neural mediators such as dopamine and serotonin. This study investigates the relationship between monoamine oxidase A (MAO-A) gene polymorphism with exercise motivation and physical activity level in healthy men and women. Subjects and

One hundred twenty-two participants (age mean 24.37 ± 5.72 years old, 55 males & 67 females) completed the behavioral regulation in exercise questionnaire–2 (BREQ-2) to assess their motivation to exercise and the international physical activity questionnaire (IPAQ) to assess their level of physical activity. DNA was isolated from a cheek cell sample. MAO-A genotype was identified by PCR with specific primers.

One-way ANOVA test for comparing BREQ-2 scores and specific motivational groups showed that the mean of BREQ-2 total scores was not significantly different between genotypes. Also, there was no significant difference in motivational categories between genotypes (P>0.05). It was also found that individuals carrying the 3.5/3.5 genotype had more body activity per week than the other two genotypes, although this difference was not significant (P>0.05).

In general, the present study did not show the expected relationship between MAO-A genotype and level of physical activity because there is no difference between the amount of physical activity between genotypes. This suggests that intrinsic factors play an important role in determining the level of physical activity.

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.

Generational health analysis on the acquisition, application, and transfer of intergenerational values is an important issue from the perspective of religion and genetics. Healthy generation means generational solidarity and lack of disruption or crisis in generations despite generational differences. The purpose of this study was to identify the common points and solutions about healthy generation in religion and genetics.

This qualitative content analysis was done by studying documents. First, to find research concepts (data), religious and scientific texts were searched using the following keywords: generation, uterus, coupling, inheritance, nature, gene, genetics, and epigenetics. Data was then processed according to scientific and religious fields and analyzed on the basis of valid interpretative theories and empirical studies.

The creation of generation is a continuous, regular, and formative process that begins before selecting the spouse and continues until late adulthood. Religious propositions and genetic findings are similar despite having their own arguments. The study found that parental traits are transmitted through genes, but, education and behavioral patterns play significant roles in generational health.

Specific training styles with emphasis on five stages of human life (1- pre-spouse selection, 2- spouse selection, 3- before sperm coagulation, 4- embryonic and pregnancy periods, 5- childhood to adulthood) are effective in generating health and excellence and minimizing the role of abnormal genome, and should be considered in intergenerational education.