Cancer is a group of diseases that have been associated with humans throughout the history and the main character is their growth cell without control. Almost all the cells in the body have the ability to become cancerous. Leukemia is cancer that affects leukocytes. Leukocytes are divided into two groups of lymphocytes and myelocytes. Acute lymphoblastic leukemia is the most common cancer in children. The WWOX is a tumor suppressor gene, Which has fragile site 16D in this gene. In several studies, the decrease of mRNA expression WWOX has been reported in patients with acute lymphoblastic leukemia (ALL) than in the control group. Rs1121404 is located in the intron between exons 8 and 9 of the WWOX gene. In a recent study, rs1121404 has been significantly associated with ALL. Accordingly, we examined the association of this polymorphism with ALL by using of tetra-primer ARMS-PCR technique in 65 patients with ALL and 146 healthy individuals from Khuzestan province. Additionally, a number of samples were sequenced to confirm the results. The results of this study indicated that rs1121404 has significant association with susceptibility to ALL in Khuzestan province (OR=2.389, P=7.20E-05).

Introduction: Hypohidrotic ectodermal dysplasia (HED) is the most prevalent type of ED and is inherited in an X-linked (XL), autosomal recessive (AR), or autosomal dominant (AD) manner. The incidence of HED is estimated at 1 in 10000-100,000 live births. Mutations in only 4 genes (EDA1, EDAR, EDARADD, and WNT10A) are responsible for most cases of ED. Deficiencies in the EDA – EDA receptor (EDAR) signaling pathway cause hypohidrotic ectodermal dysplasia (HED).
Materials & methods: In this study, 4 patient with HED manifestations and their family members were studied. DNA was extracted from blood of all patients and their family members by Salting out method. To find the mutations and approval of disease-causing mutations, PCR products of all patient's exons were analyzed by sequencing and Bioinformatic analysis were done.
Results: According to the molecular genetic testing, a missense mutation G to A at codon 156 in exon 11 of the EDA gene causes substitution Arginine to Histidine and G to A at codon 404 of EDAR gene causes substitution Alanine to threonine. To confirm the pathogenic effect of the founded mutations, PCR and sequencing was performed for 120 normal controls and used some prediction softwares and molecular dynamics simulation.
Conclusion: According to the obtained experimental results and Bioinformatic analysis, it can be concluded that the syndrome is caused by mutations in the EDA and EDAR genes in 2 HED patients.
 

 Objective: Multiple sclerosis is a neurological disease of unknown etiology that affects the brain and spinal cord. IL-6 gene produces a multifactorial cytokine that mediates many of acute and chronic inflammatory processes, which may affect susceptibility to MS. Increased levels of IL-6 have been shown in the blood, cerebrospinal fluid, and central nervous system lesions of patient with MS during the active phase of the disease. Data is shown that some of polymorphisms reported in the promoter region of IL-6 can affect IL-6 levels. Description of the IL-6 promoter region has indicated the presence of several genetic polymorphisms: -174(G>C), -572(G>C), -597(G>A). The −174 C allele can repress IL-6 transcription, However fewer is known of the functional roles of other IL6 promoter polymorphisms. the aim of this study was to investigate rs1800795 (-174 G/C), rs1800796(-572 G/C), rs1800797 (597 G/A) polymorphisms in the promoter of IL-6 gene and reveal their role in risk and clinical course of MS in group of men patients originated from Khuzestan population. Materials and Methods: In this study, 92 men patients with MS (mean age- 35.84±8.97 years) that their disease is diagnosed by neurologists according to the McDonald criteria were selected. Furthermore, 92 unrelated healthy controls (mean age - 34.68 ±9.03 years) were matched. Statistical analysis was carried out using SPSS software version 18.00, chi-square test, Mann Whitney test and One-way ANOVA test. Genotyping of the -174, -572 and -597 variants was performed by a PCR-RFLP method in total of 184 subjects. Then some genotyping results were validated by direct sequencing. Results: Our data demonstrate that there was any significant association between IL-6pr genotypes and type of MS, age at diagnosise , EDSS. Also, no significant association were found between MS patients and healthy control subjects with respect to the -572 G>C allele or genotype distribution (P=0.833). while, Significant association between -174 G/C and -597 G/A polymorphisms and risk of MS was observed (P=0.019, P=0.05). Conclusion: Given that there were the significant association between rs1800795, rs1800796 SNPs in the promoter of IL6 gene with the risk of MS, we can give the possibility that these polymorphisms may play a role important in susceptibility to MS in men population of Khuzestan.

 
Multiple sclerosis (MS) is the most frequent auto-inflammatory disease of the central nervous system (CNS). Genetic and environmental factors could be involved in pathology of MS. The multifunctional cytokine interleukin-6 (IL-6) seems involved in inflammatory processes in the CNS, play an important role in the pathogenesis of MS. The objective of this study is investigation of association between rs1800795, rs1800796 and rs1800797 polymorphisms in the promoter of IL-6 gene with risk and clinical outcomes of MS in women's Khuzestan province. Genotyping for IL-6 promoter polymorphisms was performed by PCR-RFLP method in 206 MS patients and 206 healthy subjects. Some of the samples were sequenced and correctness of results were confirmed once again. The results were analyzed using SPSS program version 18.0 and by using statistical methods Chi-square, Mann-Whitney test and One-way ANOVA. There were statistically significant differences in the distributions of the rs1800795 and rs1800797 alleles and genotypes between patients and controls. In contras, the results indicating no association of the rs1800796 polymorphism with MS susceptibility. Interestingly, the rs1800796 polymorphism showed a significant association with the expanded disability status scale (EDSS), suggesting a possible role in level of disease disability. This study presented new data concerning association of rs1800795 and rs1800797 SNPs with MS risk and some clinical symptoms and finally rs1800796 SNP with EDSS in women's Khuzestan population.

Abstract: Acute lymphoblastic leukemia (ALL) is a malignant disorder of lymphoid progenitor cells that affects both children and adults. Worldwide incidence projected is 1-4.75 per 100,000 people. The disease is determined by an expansion of leukemic blasts that circulate within the blood and disseminate throughout the tissues of the body. Precursor B-ALL is characterized by a proliferation of lymphoblasts that arrested at an early stage of B-cell maturation. Genomic profiling has identified submicroscopic genetic alterations which have important role in ALL, including transcriptional regulators of B lymphoid development (eg, PAX5, IKZF1, and EBF1) that altered in more than two-thirds of B-ALL cases. Among these transcription factors PAX5 is the main target of somatic mutations such as deletion, amplification, translocation and point mutation in acute B lymphoblastic leukemia (B-ALL), mutated in one-third of B-ALL patients. The aim of this study is to screen probable mutations in exons 1, 2 and 3 of PAX5 gene among B-ALL patients from Khuzestan province.
Materials & Methods:
The present study was carried out on 50 patients with B-ALL. Genomic DNA was extracted from blood cells and 1, 2 and 3 exons of PAX5 gene amplified with specific PCR primers. Direct sequencing of PCR products was carried out and Sequencing results was compared to the reported gene sequence.
Results:
In total, three mutations were identified in the population. c.113G>A mutation in exon and two mutations of c.212+11T>G and c.213-43T>C in intron, were found.
Discussion:
In 10 of 50 patients (20%), mutation was identified. The mutation frequency in comparison with previous studies in other countries is relatively low. Nevertheless, the study of this gene As one of the earliest works in this regard, could was helpful to determine the role of this gene and its relationship with ALL.
 

One of the cruel disorder of lymphoid progenitor cells is acute lymphoblastic leukaemia. Two cell lineage of the B and T lymphocytes engage in this disease but in most cases of acute lymphoblastic leukaemia, this transformation involves B lineage cells. 80% of this patients are children. The incidence of childhood acute lymphoblastic leukaemia is 3-3.5 in 100000 children in Europe and united states. Molecular analysis of the common genetic alterations in leukemic cells has contributed greatly to our understanding of the pathogenesis and prognosis of this cancer. Somatic alterations of the lymphoid transcription factor gene PAX5 (also known as BSAP) are a hallmark of B cell acute lymphoblastic leukemia. The PAX5 gene, located on 9p13 and is necessary for the commitment of lymphoid progenitors to the B cell pathway. This gene is mutated in about 32% of B cell acute lymphoblastic leukemia cases.
The purpose of this study was to find out probable mutations of the exons 4, 5 and 6 of PAX5 gene involved in B cell acute lymphoblastic leukemia patients in Khuzestan Province. The study comprised 50 patients with this disease of khuzestan province. Blood samples were taken and DNA was extracted. Quality and quantity of exteracted genome was studied and Probable mutations of the exons 4, 5 and 6 of PAX5 gene was studied using PCR and sequencing. The results of seguencing were compared with reference sequences of exons 4, 5 and 6 of PAX5 gene.
In one patient, 1 polymorphism was observed in intron 5 of PAX5 gene. rs7021250 polymorphism in intron 5 convert nucleotide C to nucleotide A. There are 98 nuclotides between rs7021250 polymorphism in intron 5 and last nucleotide of this exon. In other patient, 2 polymorphisms was observed in intron 6 of PAX5 gene. rs371713875 polymorphism in intron 6 convert nucleotide G to nucleotide A and rs368253522 polymorphism in intron 6 convert nucleotide C to nucleotide T. There are respectively 15 and 18 nuclotides between rs371713875 and rs368253522 polymorphisms in intron 6 and last nucleotide of this exon. This polymorphisms was reported.
Our findings on the probable mutations of the exons 4, 5 and 6 of PAX5 gene in 50 patient with B cell acute lymphoblastic leukemia in Khuzestan province indicated no mutation in this exons. 3 polymorphisms was found in this population that these polymorphisms were in the introns. Probably in this population, other part of PAX5 gene could be involved in the pathogenesis.
 

Abstract
B-Cell Acute lymphoblastic leukemia (ALL) is a malignancy of lymphoid progenitors. Global incidence is about 3 per 100,000population. ALL represents 8 % of all leukaemia (but 80% in children). There are many important genes that code transcription factors for development B-cell linage. PAX5 is a master regulator of B-cell development that its mutations was recently shown to be involved in several B-cell malignancy-associated genetic alterations. Genetic aberration targeting PAX5 were identified in more than 30% of pediatric and adult patients with acute lymphoblastic leukemia. Exon 7, 8 and 9 that coded transactivation domain of PAX5 and are very important for function of PAX5 protein.
The aim of this study was to screen B-ALL samples for exon7, 8 & 9 of PAX5 gene. Blood samples of 50 patients with B-ALL were gathered and after DNA extraction, primers design, PCR and sequencing were done.
After comparing the results with reference sequences, no mutations were showed in this part of the gene in patients. None of the patients showed mutation in this area of the gene. There found only polymorphism (G→A) with rs:35469494, in exon 9 in 8 cases (16%), that code Glysin amino acid at position 343 of protein PAX5 and at position 36846913 of choromosome 9. This polymorphism (G→A) was heterozygote in 7 cases and homozygote in 1 patient.
At first it would be very important that in spite of other studies, which mentioned mutations in exon 7, 8 and 9, our study didn’t show any changes in these exons and so this part of PAX5 protein is completely intact of point mutations in these patients of Khuzestan province. It seems in this population, other parts of PAX5 gene or other changes could be involved in the pathogenesis of B-ALL and more studies are required.
 

Cancer causes many deaths in population of women, annually. Although routine treatments cure disease to some degrees but these methods are not specific, so they are not able to remove all of the tumor cells. Disease recurrence is a major cause of many deaths performs via these unremoved tumor cells. Besides, these drugs also affect on the division of body normal cells so can lead to severe side effects in patients. Hence, it seems necessary a specific method for the complete removal of tumor cells in these patients. In this regard, it has been focused on immunotherapy approaches recently. However, it is important to find the most suitable antigens for production of cancer vaccines. Cancer/ testis antigens (CTAs) exclusively express in germ cells of testis and don’t express in body normal cells and this makes them ideal targets for cancer immunotherapy. In this study, we selected SCP-1 and CAGE-1 genes among the various cancer/ testis antigens and examined their expression in breast tumor tissues via RT-PCR and NESTED RT-PCR technices. results showed that SCP-1 gene in amount of 77.5% and CAGE-1 gene in amount of 2.5% are expressed in tumor tissues. It can be said the results of SCP-1 gene expression analysis is consistent with previous studies that show this antigen is a good target for immunotherapy. But results about CAGE-1 antigen does not confirm that this antigen could be a good target. Hence, further studies are needed about this antigen.

Renal tubular acidosis (RTA) is a rare disorder. It has four clinical types, dRTA was the first RTA recognized. The ATP6V1B1 causative gene for dRTA is located on the 2p13.1 locus and encodes, a lysosomal protein called H+-ATPase. At least 15 mutations have been described in different regions of the ATP6V1B1 gene. Substantial fraction of the patients have progressive bilateral sensorineural hearing loss. This coexistence is due to the mutations of a gene expressed both in the kidney and in the cochlea. The term ‘Type 3 RTA’ is used to describe patients, in whom HCO3− wastage coexists with failure to lower urine pH despite profound acidemia, thus demonstrating a mixed pattern of tubular dysfunction. The CAII causative gene for type 3 RTA is located on the 8q22 locus and encodes, a protein called carbonic anhydrase II. In the present study, molecular characterization of the gene was demonstrated in one family suffering Renal tubular acidosis and 50 control from 50 unrelated Iranian families without RTA.
In this study, one child diagnosed with renal tubular acidosis was evaluated. DNA was extracted from blood samples of patient, parents and all controls by the salting out extraction method. All coding exons, and exon–intron boundaries of ATP6V1B1 and CAII genes were polymerase chain reaction (PCR) amplified by 22 pair primers designed by primer3out software. Amplified products were subjected to mutational analysis by direct sequencing.
Screening of the entire coding sequence of the CAII gene showed no mutation in this gene and this screening for ATP6V1B1 had been shown deletion of an A nucleotide at position 1280 in exon 12 (1280delA). To verify the new mutation, 100 alleles (50 Iranian normal blood donors, aged 20 to 30 years) were analyzed, and no 1280delA was found.