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Background and Objective: Gastric cancer is the most common cancers worldwide. The survivin gene which encodes an apoptosis protein inhibitor plays an important role in maintenance and integrity of the gastric mucosa. The gene is necessary for the normal physiologic function of the stomach, but its expression increases in gastric cancer. Regarding with the role of polymorphisms of the promoter region in genes expression, this study was done to determine the association of single- nucleotide polymorphism (rs9904341) -31C/G in promoter survivin gene with risk of gastric cancers.
Methods: In this case-control study, 101 patients with gastric cancer and 101 matched age and gender healthy subjects as the control were examined by PCR-RFLP technique.
Results: Genotype CC was significantly increased the risk of gastric cancer up to 2.4 folds (95% CI=1.03–5.61, P<0.04) and allele C, as risk allele, significantly increased the risk of gastric cancer up to 1.5 folds (95% CI=1.02–2.30, P<0.03). Also, CC + GC genotypes significantly increased the risk of diffuse type of gastric cancer by 4.4-fold (95% CI=1.30-15.10, OR=4.4, P<0.01).
Conclusion: This study showed that single- nucleotide polymorphism (rs9904341) -31C/G in promoter survivin gene significantly increase the risk of gastric cancers.

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Background and Objective: Helicobacter pylori infection is one of the most common chronic bacterial infections all over the world, particularly in the developing countries. LeoA gene plays an important role in pathogenesis, and the main role of this gene is to increase the bacterial toxin secretion. This study was conducted to isolate and clone the leoA gene in a pEGFP-C2 expression vector and evaluate its expression in eukaryotic system.
Methods: In this laboratory study, the leoA gene was amplified from the standard strain of Helicobacter pylori genome (ATCC 43504) by PCR method. It was then inserted into the pTZ vector by cloning T/A. Sub cloning of this gene was performed in a pEGFP-C2 expression vector with a ligase enzyme. The final structure of pEGFP-C2-leoA was transformed by electroporation in CHO (Chinese hamster ovary) cells and the expression of the leoA gene was evaluated by SDS-PAGE and RT-PCR.
Results: The results of PCR indicated that the 1758 bp fragment was amplified from the leoA gene. Cloning of this gene was performed successfully in pTZ and pEGFP-C2 vectors, respectively. The enzyme digestion with two KpnI and SacII enzymes, as well as sequencing, confirmed the accuracy of gene cloning. The observation of the protein product of the leoA gene in CHO cells indicated the successful expression of the LeoA gene in the eukaryotic system of Helicobacter pylori.
Conclusion: The final construct of pEGFP-C2-leoA had a successful expression of the leoA gene in animal cells.

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Autosomal recessive primary microcephaly; MCPH is a rare neurologically condition observed in new born at the birth. Most patients suffer from moderate to severe intellectual disability. In this review article, we introduce MCPH disorder; include all of the chromosomal locations, kind of MCPH genes and numbers of mutations, functional efficacy, how to identify the genes separately and diagnostic algorithm of articles and data base such as OMIM, HGMD. 23 locations genes (MCPH1-23) have been recognized causes primary microcephaly in different population, so far. Function of them is to correct orientation of mitosis spindles, duplication of DNA, organization and function of centrosome, transfer of vesicles, transcription regulation, response to DNA lesion, etc. According to investigations, MCPH in Iran and Pakistan population is common because of more consanguinity marriage. MCPH1 and MCPH5 genes are more common in Iran. Recent advances in molecular biological techniques and animal models have helped to identify the genetic cause of microcephaly and open up the horizons for researchers in the field, and also elucidating of the underlying molecular mechanisms will improve our understanding of the structure and function of the brain.

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Background and Objective: Gilbert's syndrome is a relatively common genetic disorder, which is caused by defection in uridine diphosphate glucuronosyl transferase enzyme. The indirect bilirubin increases in this syndrome, although the function of the liver is normal. Gilbert's syndrome can be seen in 3 to 10% of different populations. According to the differences in ethnic groups in Golestan Province, no studies have been conducted on the prevalence of the syndrome in the province, so far.This study was conducted to determine the prevalence of suspected Gilbertʼs syndrome in Golestan province in north of Iran.
Methods: This descriptive-analytical study was performed on 1664 subjects with 18-45 years old referring to rural and urban health centers in Golestan province, North of Iran during 2014. Liver function tests were normal in subjects. Fasting blood samples were taken from each subject and total bilirubin was tested. People with a total bilirubin of more than 1.5 mg/dl were treated with a single oral dose of rifampin 600 mg. After taking rifampicin, the individuals with an indirect bilirubin level of more than 1.3 mg/dl were found suspected of Gilbert’s syndrome.
Results: The prevalence of suspected Gilbert's syndrome was 5.8%. Moreover, suspected Gilbert’s syndrome was more common in males than females (10% in males and 4.3% in females) (P<0.05). According to ethnicity, the prevalence of suspected Gilbert's syndrome was 5.4%, 5.4%, and 6.8% in Sistani, Fars and Turkmen subjects, respectively. This difference was not significant. The prevalence of suspected Gilbert's syndrome in three ethnicities was higher in males than females and it was statistically significant in Sistani and Fars ethnicities (P<0.05) but not significant in Turkmen ethnicity.
Conclusion: Suspected cases of Gilbert's syndrome were more common in men than women, and more prevalent in the Turkmen ethnic group.

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Background and Objective: Type II diabetes is a major globle health problem that can lead to disability and early death. This study was performed to evaluate the association of TCF7L2 (rs7903146) polymorphism with type II diabetes.
Methods: This case - control study was done on 100 patients with type II diabetes and 100 healthy subjects. Following DNA extraction, TCF7L2 (rs7903146) genotype was determined and compared between two groups by Tetra-Arms PCR method.
Results: The frequency of CT genotype was 25% and 56% in healthy subjects and patients, respectively (P<0.05). The frequency of TT genotype was 2% and 6% in control and patient groups, respectively. In the co-dominant model, rs7903146 was dependent on type II diabetes.
Conclusion: Human heterozygote for Lucos TCF7L2 (rs7903146), which contains T alleles, are high risk for developing diabetes mellitus.

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Background and Objective: Familial hypercholesterolemia (FH) is one of the most common inherited familial diseases that cause lipid accumulation in tendons and arteries by increasing the level of low density plasma lipoprotein (LDL). The main cause of FH is a mutation in the low-density lipoprotein receptor (LDLR) gene. This study was performed to evaluate common mutations in LDLR gene in FH patients.
Methods: This descriptive study was performed on 100 patients with suspected familial hypercholesterolemia referred to Sepehr laboratory according to the Simon Broom international standard in Karaj city, Iran during 2015. After complate the questionnaire form and drawing the family tree, it was found that 17 of them had a history of disease in at least one of the first degree relatives. The presence of changes was investigated using PCR-SSCP method, and after identifying the suspected cases direct DNA sequencing was performed.
Results: Among of 17 patients with a history of FH disease, 13 patients had a heterozygote mutation in the LDLR gene. Mutations included: c.97C>T, c.445G>T, c.651-653 (DEL3), c.652-654 (DEL3), c.682G>T, c.925-931 (DEL7), c.936-940 (DEL5), c.986G>T, c.2054C>T, c.2177C>T and c.313+1G>A. Four patients did not have mutations in their LDLR gene. In two patients the common polymorphism c.1959T>C was identified.
Conclusion: The LDLR gene was involved in the development of FH in the study population. However, another gene or locus may be involved in the outbreak of this disease in the studied population.

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Neurofibromatosis (NF) is a heterogeneous group of tumor predisposition syndromes that lead to malignancy in the central and peripheral nervous systems. Neurofibromatosis type 1 (NF1), along with neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), are the three main types of NF. As the most common form, NF1 is characterized by neurofibromas and Cafe-au-lait macules (CALMs) in early childhood. Neurofibromatosis type 1 is caused by mutations in the NF1 gene, which codes for neurofibromin, and mutations in NF2 and SMARCB1 gene lead to neurofibromatosis type 2 and schwannomatosis, respectively. In addition, most patients with neurofibromatosis type 2 have vestibular schwannoma, also associated with hearing problems and body imbalance. Recently, schwannomatosis has been proposed as a distinct genetic disorder because it shares many symptoms with neurofibromatosis types one and two, characterized by benign schwannoma around nerves. NF1 and NF2 may show symptoms in childhood, but schwannomatosis is often diagnosed in people in their thirties or older. This article reviews the latest scientific literature according to the keywords of neurofibromatosis, pathogenesis, treatment, NF1, and NF2 in Google Scholar, PubMed, and Web of Science online databases on the types of neurofibromatosis, molecular pathways, diagnostic criteria, clinical symptoms, condition management, treatments and drugs under development.

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Background and Objective: Micro-ribonucleic acids (microRNAs) have introduced a new field in the molecular diagnosis of cancer. However, the role of circulating microRNAs in the plasma/serum of colorectal cancer patients is still unclear. This study was conducted to determine the expression of let-7d microRNA in patients with colorectal cancer.
Methods: This case-control study was conducted on 40 patients with colorectal cancer and 40 healthy people. In this study, 7 mL blood samples were collected from patients with colorectal cancer (both before and after tumor resection) and healthy individuals (only once). The serum samples were isolated and stored at - 80°C until molecular analysis. MicroRNAs were extracted from serum samples, and cDNA was synthesized. Let-7d expression was examined using the RT-qPCR method. Data were analyzed using GraphPad Prism v. 9 software. The receiver operating characteristic (ROC) curve analysis, sensitivity, and specificity were also calculated for the let-7d microRNA data to introduce a diagnostic biomarker between the preoperative patient group and the control group.
Results: In the preoperative samples of the patients, the expression of let-7d microRNA was significantly lower than that of the control group (P˂0.05). The expression of let-7d microRNA significantly increased after tumor resection compared to before. The ROC analysis for let-7d microRNA in the preoperative patient group with the control group showed that the sensitivity was 33.3%, specificity was 92.3%, and the area under the curve (AUC) was 0.622.
Conclusion: Let-7d microRNA could potentially serve as a new noninvasive diagnostic biomarker for the early detection of colorectal cancer. However, further studies are required on this subject.

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Background and Objective: Prostate cancer is a malignancy affecting men. Identifying risk factors for prostate cancer is crucial for the potential development of interventions and expanding our biological understanding of this disease. The present study investigated the association of rs1800896 and rs1800896 with prostate adenocarcinoma.
Methods: This case-control study was conducted on 176 men, including 78 patients with prostate adenocarcinoma (case group) and 98 men with benign prostatic hyperplasia (control group), who visited the Labafinejad Educational and Treatment Center in Tehran, Iran. Genotyping was performed using the Tetra ARMS-PCR (amplification refractory mutation system-polymerase chain reaction) method.
Results: There was no statistically significant difference between the case and control groups in the genotype frequency of rs1800896 and rs1465618. However, the rs1800896 polymorphism was associated with PSA levels less than or equal to 4 ng/mL (P<0.05). Significant associations were found between rs1800896 and rs1465618 polymorphisms and clinical features, such as perineural invasion (P<0.05).
Conclusion: The rs1800896 and rs1465618 polymorphisms were not associated with the risk of prostate adenocarcinoma.

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According to the US Centers for Disease Control and Prevention (CDC) definition, genetic counseling is a process in which information is presented about how genetic conditions affect a patient or his/her family. A genetic counselor collects a patient’s personal and family health history to promote the family’s awareness and perception of specific genetic diseases, testing risks and advantages, disease management, and assessment of available therapeutic options. Intellectual disability (ID) and deafness are two common disabilities with considerable impacts on the quality of life of patients and their families. The present research has investigated the role of genetic counseling in the screening and prevention of deafness and ID based on the studies published in the Web of Science, PubMed, and Google Scholar databases between 2015 and 2023. Genetic counseling can be employed as an influential tool in screening, early diagnosis, and prevention of ID and deafness. Considering that many cases of ID and deafness are rooted in individual genetics, genetic counseling can help lessen the risk factors of developing these disabilities and improve the quality of individual and family life. The effect of genetic counseling, as an influential tool, on screening, early diagnosis, and prevention of ID and hearing loss is also assessed.