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International Journal of Hematology-Oncology and Stem Cell Research، جلد ۹، شماره ۴، صفحات ۱۹۸-۲۰۲
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عنوان انگلیسی A Large Cohort Study of Genotype and Phenotype Correlations of Beta-Thalassemia in Iranian Population
چکیده انگلیسی مقاله Background: Thalassemia syndromes are the most prevalent single gene disorders in Iran. This study aimed to evaluate the effect of different types of beta-globin gene mutations, co-inheritance of alpha-globin gene mutations and/or Xmn1 SNP on disease phenotype in a large cohort of Iranian patients. Subjects and Methods: In total, 433 patients were clinically classified into β-thalassemia major (TM) or intermedia (TI). Multiplex PCR, ARMS-PCR, RFLP-PCR and DNA sequencing were performed to identify both α- and β-globin gene mutations and Xmn1 polymorphism as well. All data were compared and analyzed by SPSS software in TM and TI groups consequently. Results: A total of 39 different β-globin mutations were identified. Among them, the most common were IVS IInt1 (40.33%) followed by IVS Int5 (9.56%), C30 (7.22%) and Fr8-9(7%). All patients were subjected to evaluate common α-globin gene deletions. The patients inherited concomitant mutations of α- and β-globin, showed no clinical modifications compared with those who had only β-globin mutation. The TI patients showed a significant increase in frequency of both heterozygous and homozygous form of the Xmn1 polymorphism. It was also found that β 0 /β 0 genotype patients, inherited the Xmn1 polymorphism required lesser blood transfusion. Conclusion: No significant differences were observed, on the severity of disease, between patient's inherited defective α- and β-globin genes and ones with just β-globin gene mutation. Taking the results of this research into account, Xmn1 polymorphism can be considered as an important genetic factor modulating the severity of disease.
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نویسندگان مقاله فرشته مریمی | fereshteh maryami
biotechnology research center, department of molecular medicine, pasteur institute of iran, tehran, iran

سازمان اصلی تایید شده: انستیتو پاستور ایران (Pasteur institute of iran)

آزیتا آذرکیوان | azita azarkeivan
pediatric hematology oncology, transfusion research center, high institute for research and education in transfusion medicine, department of thalassemia clinic, tehran, iran


محمد صادق فلاح | mohammad sadegh fallah
kawsar human genetics research center, tehran, iran


سیروس زینالی | sirous zeinali
iranian molecular medicine network, biotechnology research center, pasteur institute of iran, pasteur st, tehran, iran kawsar human genetics research center, tehran, iran

سازمان اصلی تایید شده: انستیتو پاستور ایران (Pasteur institute of iran)

نشانی اینترنتی http://ijhoscr.tums.ac.ir/index.php/ijhoscr/article/view/471
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