MUTATION FREQUENCY OF β -GLOBIN GENE AMON β -THALASSEMIA MAJOR PATIENTS REFERRED TO THE SHAFA HOSPITAL OF AHVAZ

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GALEHDARI HAMID; BABA AHMADI M.; ANDASHTI B.; PEDRAM MOHAMMAD; ZANDIAN KH.M.

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Journal Paper

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Journal: Jundishapur Scientific Medical Journal Year:2009 | Volume:7 | Issue:4 (59) Page(s): 495-503

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Title

MUTATION FREQUENCY OF β -GLOBIN GENE AMON β -THALASSEMIA MAJOR PATIENTS REFERRED TO THE SHAFA HOSPITAL OF AHVAZ

Author(s)

Keywords

β -THALASSEMIA

β -GLOBIN

GENE MUTATIONS

DNA SEQUENCING

Abstract

Objective: b-thalassemia is characterized by reduced synthesis of the hemoglobin b-chain. Nowadays, more than 200 disease-causing mutations in b-globin gene have been identified. b-thalassemia is the commonest monogenic diseases worldwide and the most common hereditary disorder in Iran. Since the gene frequency of b-thalassemia is high and varies considerably in each region and due to multiethnic population in Khozestan province of Iran, it is expected that a vast spectrum of b-thalassemia mutations may be present in this region. Therefore it is necessary to determine the frequency and distribution of b-thalassemia mutations in different areas of the country. Subjects and Methods: After collection of information and samples of 202 b-thalassemia major patients, genomic DNA from blood was extracted and after amplification of b-globin gene by specific primers, full length sequencing of b-globin gene was done by DNA SEQUENCING. Results: Twenty nine GENE MUTATIONS were found in 404 studied alleles. Our results show that IVSII-1(G>A) with a frequency of 21.3% (86) represented the most common mutation. The descending frequency of other four mutations were: IVSI-110(G>A) (17.8% ), CD36/37 (-T) (16%), IVSI-5(G>C) (6.9 %) and CD5 (-CT) (5.2%). Conclusion: Our findings indicate that the Khuzestan population has a wide variety of b-thalassemia allelic distribution. These results can be used as a basis of prenatal diagnosis of b-thalassemia.

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APA: Copy

GALEHDARI, HAMID, BABA AHMADI, M., ANDASHTI, B., PEDRAM, MOHAMMAD, & ZANDIAN, KH.M.. (2009). MUTATION FREQUENCY OF β -GLOBIN GENE AMON β -THALASSEMIA MAJOR PATIENTS REFERRED TO THE SHAFA HOSPITAL OF AHVAZ. JUNDISHAPUR SCIENTIFIC MEDICAL JOURNAL, 7(4 (59)), 495-503. SID. https://sid.ir/paper/546087/en

Vancouver: Copy

GALEHDARI HAMID, BABA AHMADI M., ANDASHTI B., PEDRAM MOHAMMAD, ZANDIAN KH.M.. MUTATION FREQUENCY OF β -GLOBIN GENE AMON β -THALASSEMIA MAJOR PATIENTS REFERRED TO THE SHAFA HOSPITAL OF AHVAZ. JUNDISHAPUR SCIENTIFIC MEDICAL JOURNAL[Internet]. 2009;7(4 (59)):495-503. Available from: https://sid.ir/paper/546087/en

IEEE: Copy

HAMID GALEHDARI, M. BABA AHMADI, B. ANDASHTI, MOHAMMAD PEDRAM, and KH.M. ZANDIAN, “MUTATION FREQUENCY OF β -GLOBIN GENE AMON β -THALASSEMIA MAJOR PATIENTS REFERRED TO THE SHAFA HOSPITAL OF AHVAZ,” JUNDISHAPUR SCIENTIFIC MEDICAL JOURNAL, vol. 7, no. 4 (59), pp. 495–503, 2009, [Online]. Available: https://sid.ir/paper/546087/en

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