DETECTION OF UNKNOWN DELETIONS IN ALPHA GLOBIN GENES IN ALPHA THALASSEMIA CARRIERS USING REAL-TIME PCR

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JAMALI SOMAYEH; MAHDIAN R.; HAYAT NOUSAEID M.; BABASHAH S.; MARYAMI F.; KARIMIPOUR MORTEZA; ZARBAKHSH B.; RAHIMINEZHAD F.; ZEYNALI SIROUS

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Journal: Pathobiology Research Year:2009 | Volume:11 | Issue:3-4 Page(s): 31-39

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Title

DETECTION OF UNKNOWN DELETIONS IN ALPHA GLOBIN GENES IN ALPHA THALASSEMIA CARRIERS USING REAL-TIME PCR

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Keywords

α THALASSEMIAQ3

REAL-TIME PCRQ3

THRESHOLD CYCLEQ3

Abstract

Objective: Alpha-thalassemia is one of the most prevalent hemoglobin disorders in the world and it is a common hereditary condition caused by deletion of one or more a-globin genes. Common a-thalassemia deletions like 3.7 kb, 4.2 kb, 20.5 kb and Med can be detected by Multiplex PCR. There are, however, some unknown deletions that can not be detected by the mentioned method or even by direct DNA sequencing. In the present study, REAL-TIME PCR was used to determine the presence or absence of unknown deletions. Materials and Methods: REAL-TIME PCR was performed using intercalating dye SYBR Green I and a1, a2 and CLCN7 genes were amplified. Data analysis was conducted using comparative threshold method ( DDCT) for determination of Gene dosage of a1-globin and a2-globin genes. Results: The results showed the ratio of 0.90±0.16 for normal individuals and the ratio of 0.32±0.15 for carrier samples with deletions. In addition, Melting curve analysis confirmed the specific amplification of target genes. Conclusion: The REAL-TIME PCR assay is simple, rapid, and reliable. It can be applied for direct determination of unknown deletions in Alpha-thalassemia carriers.

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APA: Copy

JAMALI, SOMAYEH, MAHDIAN, R., HAYAT NOUSAEID, M., BABASHAH, S., MARYAMI, F., KARIMIPOUR, MORTEZA, ZARBAKHSH, B., RAHIMINEZHAD, F., & ZEYNALI, SIROUS. (2009). DETECTION OF UNKNOWN DELETIONS IN ALPHA GLOBIN GENES IN ALPHA THALASSEMIA CARRIERS USING REAL-TIME PCR. PATHOBIOLOGY RESEARCH (MODARES JOURNAL OF MEDICAL SCIENCES), 11(3-4), 31-39. SID. https://sid.ir/paper/81085/en

Vancouver: Copy

JAMALI SOMAYEH, MAHDIAN R., HAYAT NOUSAEID M., BABASHAH S., MARYAMI F., KARIMIPOUR MORTEZA, ZARBAKHSH B., RAHIMINEZHAD F., ZEYNALI SIROUS. DETECTION OF UNKNOWN DELETIONS IN ALPHA GLOBIN GENES IN ALPHA THALASSEMIA CARRIERS USING REAL-TIME PCR. PATHOBIOLOGY RESEARCH (MODARES JOURNAL OF MEDICAL SCIENCES)[Internet]. 2009;11(3-4):31-39. Available from: https://sid.ir/paper/81085/en

IEEE: Copy

SOMAYEH JAMALI, R. MAHDIAN, M. HAYAT NOUSAEID, S. BABASHAH, F. MARYAMI, MORTEZA KARIMIPOUR, B. ZARBAKHSH, F. RAHIMINEZHAD, and SIROUS ZEYNALI, “DETECTION OF UNKNOWN DELETIONS IN ALPHA GLOBIN GENES IN ALPHA THALASSEMIA CARRIERS USING REAL-TIME PCR,” PATHOBIOLOGY RESEARCH (MODARES JOURNAL OF MEDICAL SCIENCES), vol. 11, no. 3-4, pp. 31–39, 2009, [Online]. Available: https://sid.ir/paper/81085/en

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