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Background: Leishmania major and leishmania tropica are the main causes of cutaneous leishmaniasis in Iran, especially in Isfahan and Bam regions. In this study, noticing the effect of diversity of this parasite strains on designing disease control strategies, human isolates were examined through PCR-RFLP to determine the type of strains. Materials and Methods: In this experimental study, 340 samples obtained from CL patients due to Leishmania were cultured and prepared for microscopic study and examined through PCR-RFLP. The products of some of these samples were sequenced and analyzed. ITS1 region of genomic DNA was extracted and amplified with LITSr and L5.8s primers. Data on sequencing the samples were related to ITS1 region that in extracted DNAs with LITSr and L5.8s primers appeared with four kinds of genotype patterns, two for L.major and two for L.tropica in Isfahan and Bam regions. Results: Genotypic groups, LmA and LmB, were detected from L.major isolates while LtA and LtB genotypic groups were indicated for L.tropica in these two regions. The most prevalent genotypes related to isolates of Isfahan were LmA geneotype, whereas LtA geneotype was mostly reported in isolates of Bam. Conclusion: Leishmania major and leishmania tropica, the causative agents of zoonotic cutaneous leishmaniasis (ZCL) in Isfahan and anthroponotic cutaneous leishmaniasis (ACL) in Bam, respectively, are genetically polymorphic species. There exists a relationship between genetic heterogeneousness and clinical manifestation and geographical regions of this disease in human

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Background: Cutaneous leishmaniasis is a health problem in many areas of Iran. Cutaneous leishmaniasisis reported mostly in the central county of Qom province, including Ghanavat and Qomrood villages. This study was done to identify parasite species in human and rodents in order to illustrate the epidemiologic picture of the disease and provide an appropriate control program in 2010 Materials and Methods: This cross-sectional study was done on microscopic smears of 45 human samples and rodents samples hunted around Ghanavat and Qomrood villages in the central county of Qom province in 2010.In total,15 human samples and one hunted rodent sample were positive. In this study,the DNA of the parasites were extracted from the slides and analyzed by Leishmania specific premiers using ITS1 PCR-amplification (Internal Transcribed Spacer1). PCR (PolymeraseChain Reaction) products were digested by Haelll enzyme. Results: Overall, 15 human samples and one rodent sample from Merioneslibycus species were evaluated by PCR-RFLP (Restriction Fragment Length Polymorphism). After electrophoresis, it was demonstrated that the parasite was Leishmaniamajor in both human and rodent species. Conclusion: PCR-RFLP technique is an effective method to determine Leishmania parasite species in Geimsa stained slides from human and rodent reservoirs. One of the advantages of this technique is that it is possible to recognize the pathogen species of Leishmania parasite without gene sequencing. Besides, PCR-RFLP technique is a method of quite high sensitivity and specificity which can identify parasite species in addition to the diagnosis of leishmaniasis within 24 hours.

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Background: Tuberculosis is an old problem that is currently considered a great challenge. Noticing Iran’s borders with Afghanistan and Pakistan, which are among the 22 high burden countries around the world, the present study was conducted to analyze the current molecular epidemiology of TB and survey genetic diversity of Mycobacterium tuberculosis strains in Markazi province, Iran. Materials and Methods: In this experimental study, 57 sputum specimens from smear positive patients admitted to health centers in Markazi province were cultured on specific mycobacterial culture media. Genomic DNA was extracted by standard protocols of WHO and digested separately by PvuII and AluI. Electrophoresis was performed and DNA fragments were transferred to positively charged nylon membrane by southern blotting method and hybridization by PGRS probe. The hybridized strains were subsequently detected by enzymatic reaction and analyzed. Results: Genotyping of the isolates by PGRS-RFLP with Pvu II and AluI displayed a wide range of genetic diversity so that 50 and 45 genotypes were identified, respectively. Conclusion: Noticing the great diversity of PGRS in the Mycobacterium tuberculosis strains, it can be concluded that in the study population, the majority of the patients hadtuberculosis with different etiologies. Therefore, it seems that reactivation of latent infection has had the main role in the spread of tuberculosis

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Background: Influenza type A virus is one of the most important viral agents in human respiratory diseases. The genetic variability of the influenza viruses leads to the incidence of new epidemics worldwide. Hence, there is a growing need for rapid and effective new methods capable of detection and differentiation of influenza virus circulating strains. This study was done to develop a method for rapid differentiation of the subtypes of influenza type A virus. Materials and Methods: In this experimental study, reverse-transcription and polymerase chain reaction (RT-PCR) were performed using a primer set based on M gene of H1N1, H3N2, H5N1, and H9N2 influenza subtypes. Then the amplified fragments were subjected to digestion using subtype specific restriction endonuclease enzymes. Results: The results of PCR reaction showed that the primer pair of the M gene was specific and capable of amplifying all influenza subtypes understudy. Also, different restriction fragment length polymorphism patterns (RFLP) were generated using enzyme digestion reaction on the amplified segment of M gene. Conclusion: RT-PCR and RFLP analysis of the M gene can be employed as a useful method for differentiating influenza virus subtypes

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Background: There is abundant evidence indicating that inflammatory mechanisms within the central nervous system contribute to cognitive impairment via cytokine-mediated interactions between neurons and glial cells. BAT1, a member of the DEAD-box family of RNA helicases, appears to regulate the production of inflammatory cytokines associated with AD pathology. In the current study BAT1 -22 promoter polymorphism was analyzed in AD and control subjects.

Materials and Methods: In this case-control study, genomic DNA from peripheral blood samples of 153 Alzheimer’s patients and 153 healthy controls was extracted using salting-out method. DNA analysis was performed by PCR-RFLP method and p<0.05 was considered statistically significant.

Results: After genotyping and statistical analysis the results failed to show any association between BAT1 -22 promoter polymorphism and sporadic Alzheimer’s disease.

Conclusion: BAT1 -22 is not associated with Alzheimer’s disease in Iranian population and so has no effect on predisposition to sporadic Alzheimer’s disease.

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Background: Preeclampsia (PE) is a serious problem of pregnancy and its etiology is still unknown. The inheritance of preeclampsia is one of the theories regarding to the etiology of preeclampsia. Methylenetetrahydrofolatereductase (MTHFR) is a key enzyme in folate metabolism and the C677T polymorphism of the MTHFR gene is associated with decrease MTHFR activity, and therefore cause higher blood levels of homocysteine and leads to vascular disease that can be the reason of preeclampsia. The aim of this study was to evaluate the relationship between MTHFR gene C677T polymorphism with PE development in south-west of Iran.

Materials and Methods: This case-control study was performed in 129 preeclamptic pregnant women and 125 control individuals.The C677T polymorphism of the MTHFR gene was determined by PCR-RFLP method.

Results: The CC, CT and TT genotypes frequency of C677T polymorphism of MTHFR gene were 57.4, 38.8 and 3.9 percent in preeclamptic women and 53.6, 40 and 6.4 percent in control group. They were not significantly different (p=0.614). However, the frequency of TT genotype was higher in control group (p=0.36). There was not any significant difference in T allele distribution between preeclamptic women (23.3%) and control group (26.4%).

Conclusion: Our results showed that there was not any correlation between the C677T polymorphism and PE but the TT genotype of C677T polymorphism seems to be a protective factor for preeclampsia.

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Background: There have been reports showing the protective role of inducible Heat-shock protein (HSP) 70 in gastric epithelial cells. HSP70-2 gene is located in the class-III region of the MHC on the short arm of chromosome 6. The HSP70-2 gene has a pst1 site due to an A to G transition at the 1267 position and different genotypes of the HSP70-2 gene have been shown to be associated with a different level of HSP70 mRNA expression. This study was performed to investigate relations between polymorphism of the HSP70-2 gene and risk of peptic ulcer diseases.

Materials and Methods: In this descriptive analytical study, the studied population comprised 100 subjects, attending the Endoscopy Center of Hafez Hospital in Shiraz on 2012. All subjects underwent upper gastroscopy. Genomic DNA was extracted from bioptic tissues. Genotypes were determined in patients and controls using PCR-RFLP.

Results: In the non-ulcer subjects, the HSP70-2 genotype distribution was 20 AA (40%), 26 AG (52%), and 4 GG (8%). Meanwhile, the HSP70-2 genotype distribution in peptic ulcer patients were 5 AA (10%), 44 AG (88%) and 1 GG (2%). The results showed that 1267G/A HSP70-2 Gene polymorphism is associated with peptic ulcer.

Conclusion: It appears that polymorphism of HSP70-2 gene is associated with the susceptibility to peptic ulcer diseases. The analysis showed that the AG genotype increased the risk of peptic ulcer (OR=6.76, 95%CI=2.26-20.20, p=0.0006).

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Background: Allergy is regarded as a multifactorial condition that its onset and severity are influenced by both genetic and environmental factors. Hence, identification of genetic factors involved in allergic rhinitis development and its related phenotypes is a major task in understanding the genetic background of allergic rhinitis. This study was designed to examine the association between IL-18 -607 A/C promoter polymorphism on chromosome 11q22 and allergic rhinitis.

Materials and Methods: In this analytic study, genomic DNA was obtained from the blood samples of 293 patients with allergic rhinitis and 218 healthy controls by standard phenol chloroform method. The IL-18/-607 A/C polymorphism was analyzed by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis. To analyze the association between genotypes and alleles and the disease in the case group compared with the control group, X2 test was used.

Results: The frequency of the AC genotype of the IL-18/-607 A/C gene polymorphism was significantly greater in allergic rhinitis patients than in controls (p<0.05). By comparing the frequency of AA genotype with other genotypes, OR was calculated as 2.03.

Conclusion: The results suggest that IL-18/-607 A/C polymorphism gene may be one of the factors participating in the pathogenesis of AR or its intermediary phenotypes.

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Background: Diabetic retinopathy (DR) is the complication of diabetes mellitus (DM) and causes blindness among adults. Chronic extra cellular hyperglycemia in diabetes stimulates reaction oxygen species ROS production and increases oxidative stress. GPX-1 that was coded by GPX-1 gene is a key enzyme in protecting vessels against oxidative stress. The aim of this study was to evaluate the association of GPX-1 gene Pro 198 Leu polymorphism in patients with diabetic retinopathy.

Materials and Methods: In this case-control study, 160 blood samples of participants including 80 patients with diabetic retinopathy and 80 healthy individual were tested. Genotyping of GPX-1 gene was determined by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) by ApaI enzyme. Data analysis was performed using MedCalc (12.1) program.

Results: The genotype frequencies of the GPX-1 in DR patients for Leu/Leu, Leu/Pro, Pro/Pro were 10%, 62.5% and 27.5%, respectively, while for the control groups were 10%, 70% and 20%, respectively.In ohter words, Ile/Pro heterozygote was the most frequent genotype in patients and controls. According to the results of this study, there was not significant difference between patients with diabetic retinopathy and controls(p=0.52).

Conclusion: It is concluded that GPX-1 gene Pro 198 Leu polymorphism is not associated with DR. Further research is required to clarify the role of GPX-1 gene in DR in Rasht population along higher sample size.

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Background: ANKK1 (ankyrin repeat and kinase domain containing 1) gene is a member of the serine/threonine kinase family. This family involved in signal transduction pathways. This gene contains Taq1A (rs1800497) single nucleotide polymorphism. The A1 allele carriers of TaqIA polymorphism have shown reduced DRD2 (Dopamine Receptor D2) receptors. This decrease predisposes individuals to seek for addictive substances to compensate this deficiency in dopaminergic system. The present study investigated TaqIA (rs1800497) polymorphism in heroin and methamphetamine addiction.

Materials and Methods: In this case-control study, 91 male methadone-maintained heroin and methamphetamine addicts and 100 male healthy controls were studied. Genomic DNA extraction was carried out from peripheral blood through salting-out method and individuals were genotyped for TaqIA polymorphism by RFLP-PCR technique and TaqI enzyme was used for RFLP.

Results: This survey revealed the significantly higher frequency of the A1 allele of TaqIA polymorphism in patients than control individuals (p<0.001). The frequency of A1 allele in patient and control individuals was %51 and %22.5, respectively. The A1A1 genotype was detected in 25% of patients and 7% of controls (p<0.001, OR=9.7, 95% CI=3.64-25.85).

Conclusion: The results of this study revealed that the A1 allele of TaqIA polymorphism is significantly associated with heroin and methamphetamine addiction.

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Background and Aim: Breast cancer is the most common cancer type and the leading cause of cancer-induced deaths in women, worldwide. The Fibroblast Growth Factor Receptor 2 (FGFR2) is a tyrosine kinase receptor that plays an essential role in the growth, invasion, movement, and angiogenesis of tumor cells. Several single nucleotide polymorphisms have been found in the intron 2 of the FGFR2 gene, i.e., associated with a high risk of breast cancer. Genetic variation in this receptor is a new risk factor for breast cancer. The current study aimed to evaluate the association of single-nucleotide polymorphism rs2981582C/T in women with breast cancer.
Methods & Materials:  In total, 80 women with breast cancer and 80 healthy women (controls) were selected from Markazi Province, Iran to participate in this research. Polymorphism rs2981582 was analyzed to investigate its association with breast cancer. DNA extraction from blood samples was performed using a kit. The presence of these single-nucleotide polymorphisms was determined by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR - RFLP). Statistical analyses were performed by SPSS using Chi-squared test at P≤0.05.
Ethical Considerations: This study was approved by the Ethics Committee of the Arak University (Code: IR.ARAKMU.REC.1395.28).
Results: Significant differences were observed in the frequency of rs2981582 polymorphism in the FGFR2 gene between the control and patient groups (P=0.000). In the patient group, the TT genotype was significantly associated with the risk of breast cancer (P=0.001; OR=3.566). On the other hand, allele C indicated a protective role against the disease (P=0.000).
Conclusion: The obtained data revealed a significant relationship between rs2981582 C/T polymorphism and the risk of breast cancer; thus, this single-nucleotide polymorphism could be used as a biomarker to predict breast cancer.

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Introduction: Breast cancer is a highly heterogeneous disease. The antigen molecule of four cytotoxic T-lymphocytes is involved in inhibition of T cell response and immune response regulation. Single nucleotide polymorphisms in the CTLA4 gene can affect the expression of the aforementioned molecule. The aim of this study was to investigate the polymorphisms of rs4553808 and rs733618 of CTLA4 gene with the risk of breast cancer.
Methods: In this study to investigation polymorphisms, the DNA of 80 patients with breast cancer and 80 healthy individuals in central province of ARAK were extracted from peripheral blood. Then, PCR-RFLP technique was used. The results were analyzed using SPSS software and SNP Analyzer. This study was approved by the Ethics Committee of the Arak University (Code: Ir.arakmu.rec.1396.25).
Results: Statistical analysis rs4553808 polymorphism showed no significant increase in the risk of patients with GG genotype compared with the control group (OR = 2/013, CI = 95% 1/721-2/353). Also, heterozygotes AG genotype analysis did not show any relationship between the genetic diversity and breast cancer (OR = 1/204, CI = 95% 0/604-2/402). The combination of AG + GG genotypes did not show any significant correlations (OR = 1/130, CI = 95% 0/569-2/242). Statistical analysis for rs733618 polymorphism showed increase in the risk of breast cancer. The results indicate that the TC (OR = 2/992, CI = 95% 1/280-1/998) showed a significant relationship between the genetic diversity and breast cancer. The analysis of the combined CC and TC genotypes was associated with increased risk for breast cancer compared to TT genotypes (OR = 0/334, CI = 95%; 0.143-0.782, P = 0.009). Considering that the distribution of CC and TC genotypes was significant between the two groups of control and the patient, so the frequency of TT genotype with the same amount of P = 0.001 was significant between the two groups of control and the patient.
Conclusions: There was a significant relationship between the genotypes rs733618 polymorphism and breast cancer. However, there was no significant relationship between rs4553808 polymorphism and breast cancer risk.