Background: Genetic polymorphism of CYP2A6 gene is a major causal factor in the large interindividual differences in nicotine metabolism. It may have an impact on smoking behavior and smoke-related cancer susceptibility. Until now, there are no reports of CYP2A6 ALLELE frequencies in Iranian population.Methods: In the present study, we investigated the frequencies of CYP2A6 ALLELEs in 250 male Iranians. CYP2A6*2, CYP2A6*4, CYP2A6*9, and CYP2A6*12 were determined by ALLELE-specific polymerase chain reaction.Results: Frequencies of *2, *4, *9, and *12 ALLELEs were 2.2%, 0.95%, 12.4%, and 1.34%, respectively.Conclusion: These results showed that the distribution of CYP2A6 ALLELEs in Iranian population was different from those reported previously for other ethnic groups. This highlights the importance of conducting further studies to investigate the implications on smoking dependence and cancer in Iranians.

Background and purpose: Alopecia areata (AA)، also known as spot baldness، is an autoimmune disease in which hair is lost from some or all areas of the body. Genetic factors are known to play a role in the onset of this disease. The HLA complex genes are primarily involved in AA. In present study، effect of HLA-DQA2 ALLELE frequency was analyzed in Iranian AA patients and control samples. Materials and methods The study group comprised 30 patients with Alopecia areata and 15 healthy controls. Genomic DNA was extracted from whole blood using DNG plus method. Polymerase chain reaction with sequence specific primers technique (PCR-SSP) was performed to detect HLA-DQA2. The association between HLA-DQA2 ALLELE and some risk factors such as family history، anemia، and the onset of the disease was analyzed. Results Patients included 13 females and 17 males (mean age 26. 3 ± 12. 5 years) and the controls were five females and 10 males (mean age 30. 1± 5. 8 years). The frequency of HLA-DQA2 ALLELE in AA patients (93. 33%) was not significant compared to that of the controls (76. 66%) (OR 0. 94، 95% CI =0. 018-1. 018، p>0. 05). No association was found between the disease and family history of AA (OR=0. 09; 95% CI=0. 01-0. 119، P= 0)، and onset of disease (OR =1. 015; 95% CI=0. 95-1. 07، p=0. 607). But significant correlation was observed between AA disease and anemia (OR =0. 017; 95% CI=0. 02-0. 179، p=0. 001). Conclusion This study did not show strong correlation between HLA-DQA2 ALLELE and developing Alopecia areata. The HLA-DQA2 ALLELE was associated with anemia، but not related to family history and the onset of disease.

Background: Myeloproliferative neoplasms (MPNs) are clonal malignant diseases that represent a group of conditions including polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). The aim of this study was to evaluate possible correlations between JAK2V617F ALLELE burden and clinicohematologic characteristics in Iranian patients with MPNs. We also aimed at determining the correlation between JAK2V617F ALLELE burden and use of cyto reductive treatment (hydroxyurea). Materials and Methods: We performed ARMS-PCR for all MPNs samples and subsequently performed real-time quantitative polymerase chain reaction (qRT-PCR) for JAK2V617F ALLELE burden measurement using DNA from peripheral blood leukocytes. Results: Two distinct groups of patients were examined at a single time point: group A (n=40; 20 PV, 20 ET) was examined at the time of diagnosis; group B (n=85; 40 PV, 30 ET and 15 PMF) while under treatment with hydroxyurea (HU). The median ALLELE burden of the JAK2 V617F was 72% for PV and 49% for ET patients at the time of diagnosis (p=0.01). For patients with HU treatment, we determined the median JAK2V617F ALLELE burden to be 43%, 40%, and 46.5 % in PV, ET and PMF patients; respectively. HU-treated PV patients had a significant lower %JAK2V617F than PV patients at the time of diagnosis (43% vs. 72%, p=0.005). In ET group, the relationship between the JAK2 V617F ALLELE burden and leukocyte count was significant (p=0.02 and p=0.01 in untreated and treated patients, respectively). Conclusions: Our results showed that patients with PV have a higher JAK2V617F ALLELE burden. Moreover, our study demonstrated that the JAK2V617F ALLELE burden correlates with clinical features in ET group. We also showed hydroxyurea can affect the JAK2V617F ALLELE burden in PV patients.

Aim and Background: Formation of the blood clot inside a blood vessel is known as thrombose or thrombosis. This complication usually appears through the blood platelets. The tendency to clot originates from external and genetic factors which in turn, is a result of changing in the clotting mechanism.With the aim of applying a method known as ‘’Taq man ALLELE- Specific Real-Time’’ for diagnosis and screening of V617F mutation in JAK2 gene, this study was carried out in those patients being susceptible to thrombosis.Materials and Methods: In this study, through referring to the Pathobiology Laboratory of RASHT city situated in Guilan province, 110 perfect bloods from the afflicted individuals and 105 perfect bloods from the ordinary individuals (lacking past record of the disease) were provided out of the referrers in order to study the thrombosis factors and, after DNA extraction from the whole samples, required measures to study presence of V617F mutation in JAK2 gene were taken by a method known as Taq man ALLELE-Specific Real-Time PCR, then, using statistical methods, the results were analyzed.Results: After confirming the accuracy of the desired technique applied on the control samples, the results of screening this method in the population of individual referring to study the factors of thrombosis, including factors of 2 and 5, presence of this change was suggested. Also, none of the V617F mutation in JAK2 was identified by screening on the samples of the control population.Conclusion: Our findings showed that the applied technique is sufficiently capable of diagnosing the V617F mutation in JAK2 gene. Also, lack of identification of V617F mutation in JAK2 gene in the population of those referring to the Pathobiology Laboratory for thrombosis in order to investigate factors of 2 and 5 showed that V617F mutation in JAK2 gene in the studied population is not propounded as one of the thrombosis factors.

Background: Bovine tuberculosis is a chronic bacterial disease of cattle that occasionally affects human.A unique mutation at position 169 (C®G) in Mycobacterium bovis differentiates it from Mycobacterium tuberculosis. For the first time, PCR-RFLP method was used in this study to separate the two organisms.Methods: In this study, 98 tuberculosis patients were assessed using microscopic evaluations, culture and antibiogram. Then, nucleotide changes in position 169 were investigated using ALLELE-specific PCR and PCR-RFLP methods. Finally, the results were compared with spoligotyping results.Findings: Antibiogram revealed 28 subjects (28.57%) to be resistant and 54 (55.1%) to be sensitive to pyrazinamide while and 16 cases (16.23%) showed no growth. Of 28 resistant patients, 3 (3.1%) were diagnosed with M. Bovis using the classical methods. Using molecular methods, 95 (96.93%) out of 98 subjects were diagnosed with M. tuberculosis and 3 (3.06%) with M. bovis. ALLELE-specific PCR and PCR-RFLP matched with spoligotyping results.Conclusion: Our result showed the incidence of M. bovis infection to be higher in Iranian population (3.1%) than other studied cases (0.5-1%). In addition, we showed that ALLELE-specific PCR is the method of choice because it is faster and cheaper than PCR-RFLP. However, PCR-RFLP could be a proper alternative to prevent probable mismatches in ALLELE-specific PCR.