Journal of

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Introduction: Recent molecular studies on Iranian β-thalassemia genes revealed the presence of eight common mutations associated with thalassemia. Although these mutations are frequent, there are other rare and unknown mutations that can create large problems in designing preventive programs. We detected and explained the common mutations in north-western Iran previously and detection of the rare and unknown mutations could be useful in diagnosis and design of future preventive programs. Methods: In this study, 5ml peripheral blood from 20 Azari- β-thalassemia patients whose mutation was not revealed in the previous study was collected and DNA extraction was done by isopropanol and proteinase k method. Initially, samples were examined for the rare mutations: Codon6, Codon16, Codon41/42, Codon36/37, -88 and Codon22 by ARMS – PCR techniques and then the unknown cases were directly sequenced. Results: According to our results, Codon15(TGG-TGA), Codon16(-C), Codon36/37(-T), IVSII-848(C-A), IVSII-745(C-G), -28(A-C( and Codon25/26(+T) were recognized and added to the spectrom of beta globin gene mutations in Azerbaijan and Iran. Also, we detected four SNP sites: 5’UTR+20(C-T), Codon2 (CAC-CAT) , IVSII-16(C-G) and IVSII-666(T-C) in β-thalassemia genes. Conclusion: Our results could be useful for developing molecular screening plans and help prenatal diagnosis of beta thalassemia in Azerbaijan , Iran and other neighboring countries.

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Introduction: Immunological processes play an important role in recurrent spontaneous abortion(RSA). According to studies, T lymphocytes and natural killer cells(NK cells) are two effective cell groups in RSA. The aim of this study was to study the percentage and absolute number of natural killer(NK) cells in women with RSA of unknown etiology. Methods: A total of 24 women with history of recurrent abortions of unknown etiology were studied and their peripheral blood NK cell counts were compared with a group of fertile patients. Lymphocytes from peripheral blood were isolated by ficoll paque density centrifugation. Lymphocytes were stained using anti CD56, (FITC)-anti CD16 and CYQ-CD3 monoclonal antibodies for identification of NK cells. Anti CD56 and(FITC)-anti CD69 were used for detection of activated NK cells. BD FACS caliber flow cytometry was used for data analysis. Results: On the basis of the obtained results, absolute number of CD16+56+ cells were significantly higher in Recurrent spontaneous abortion(RSA)as compared to the control group(P= 0.43). The absolute number of CD16+56 bright cells was also high in RSA(P=0.00). There was no significant difference in CD16+56dim cell count between RSA and control group(P= 0.08). In RSA, the absolute number of CD69+ cells was significantly high(P=0.02). Results also showed a significant increase in the absolute number of CD56+/CD69+ cells in RSA (P=0.04). Conclusion: The higher percentage of NK cells in peripheral blood of RSA patients as compared to the control group may indicate the same increase in number and cytotoxicity of uterine NK cells.

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Introduction: Survivin gene, as an apoptosis inhibitor, plays an important role in development of breast cancer. The differential expression of survivin in cancer versus normal adult cells as well as an association between high expression of survivin and aggressive tumors has led to use of survivin as a molecular marker for diagnosis and prognosis of tumors. The underlying mechanism of survivin over expression in cancers is not recognized yet. There is a probability that some polymorphisms in this gene can result in uncontrolled manner of this gene. The C-31G, a widely studied polymorphism in the survivin promoter, could de-repress the cell cycle- dependent transcription of survivin gene, resulting in over expression of survivin. In this hospital- based, case- control study, we aimed to investigate the correlation between the genetic polymorphism of -31G/C, surviving promoter, and breast cancer (BC) in North West of Iran. Methods: In this case–control study, the -31G/C single nucleotide polymorphism (SNP) of survivin promoter in peripheral blood samples was collected from 94 breast cancer patients with pathologically confirmed BC and 82 healthy subjects. The data were analyzed by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) and gene sequencing. Results: Statistical analysis showed that within breast cancer patients, genotype frequencies were 50%, 46.8% and 3.2% for -31G/G, -31G/C and -31C/C genotypes respectively, whereas they were 50%, 45.1% and 4.9 % for -31G/G, -31G/C and -31C/C genotypes in healthy individuals. Also the frequencies for -31 C allele were 26% and 27% in the cases and controls respectively. No statistically significant association was found between breast cancer and the variant genotypes (CC and CG). Conclusion: It seems that there was no significant association between -31G/C polymorphism, BC, and clinicopathological characteristics in the population of our study.