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Cell Journal، جلد ۲۰، شماره ۱، صفحات ۷۳-۷۷
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عنوان انگلیسی The rs1127354 Polymorphism in ITPA Is Associated with Susceptibility to Infertility
چکیده انگلیسی مقاله Objective: "Infertility is defined as the failure to conceive in a couple trying to reproduce for a period of 12 months without conception". Many studies showed that the outcome of infertility could be affected by the DNA damage. This paper tries to study the association between rs1127354 SNP as well as an important SNP (rs7270101) of ITPA gene -a key factor in the repair system-and susceptibility to infertility. Materials and methods: This study was an applied research; a comparative case-control study of individuals with recognized infertility. Blood samples were obtained from 164 infertile patients and 180 ethnically matched fertile controls, total genomic DNA extracted from whole blood using salting out method as well as BioBasic EZ-10 Spin Column DNA Gel Extraction Kit and stored in -20°C. The PCR products were digested using XmnI restriction enzyme and run on 12% polyacrylamide gel (RFLP-PCR). Results: All genotype frequencies were in Hardy-Weinberg equilibrium (HWE) in the control group. The statistical analysis demonstrated a significant difference between the rs1127354 SNP genotype frequencies in infertile patients and healthy controls. In addition, no significant association was noticed between rs7270101 SNP and infertility in cases versus controls. Also, no association was indicated by the gender stratification and different genotype models analysis. A strong association (in allelic, recessive and dominant genotypic models) was realized between rs1127354 SNP and infertility in cases versus fertile controls. No significant association was found between IVS2+21A>C SNP and infertility among Iranian infertile patients and healthy controls. Based on our best knowledge, this is the first report demonstrating these associations and must be replicated in other populations. Conclusion: It is supposed that rs1127354 variant could be a genetic determinant for decreased fertility. Considering the small sample size and other limitations, genotyping of this SNP is recommended to be carried out in different populations with more samples.
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نویسندگان مقاله | Fahimeh Mollaahmadi


| Ashraf Moini


| Reza SalmanYazdi


| Mehrdad Behmanesh


نشانی اینترنتی http://celljournal.org/journal/article/abstract/4255
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