ACCURATE DETECTION OF UNKNOWN DELETIONS IN BETA-GLOBIN GENE CLUSTER IN BETA THALASSEMIA CARRIERS USING REAL-TIME PCR AND MLPA

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BABASHAH S.; JAMALI SOMAYEH; MAHDIAN R.; HAYAT NOUSAEID M.; KARIMIPOUR MORTEZA; MARYAMI F.; RAEISI MARZIEH; ALI MOHAMMADI RAHELEH; ZEYNALI SIROUS

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Journal: The Scientific Journal of Iranian Blood Transfusion Year:2009 | Volume:5 | Issue:4 (21) Page(s): 225-235

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Title

ACCURATE DETECTION OF UNKNOWN DELETIONS IN BETA-GLOBIN GENE CLUSTER IN BETA THALASSEMIA CARRIERS USING REAL-TIME PCR AND MLPA

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Keywords

BETA-THALASSEMIAQ3

BETA-GLOBINSQ4

GENE DELETIONQ3

Abstract

Background and Objectives: Although beta thalassemia is mainly caused by mutations involving single base substitutions and small deletions, there have been reports showing deletions of large regions of beta- globin genes play a similar causing role. The strategy to identify beta thalassemia carriers with known deletions is based on PCR techniques such as Gap PCR. There are however some unknown deletions that can not be detected by the above methods. To overcome this limitation, Realtime PCR and MLPA were developed as two quantitative assays for analysis of beta-globin gene cluster.Materials and Methods: The subjects were evaluated in a case-control study. Among individuals referred to genetic laboratories of Pasteur Institute of Iran and Kawsar Genetic Research Center, 40 were suspected of having a large deletion in b-globin gene cluster. The including criteria were hematological findings such as low blood indices (MCV <80 fl and MCH <27 pg), normal HbA2 and raised or normal HbF. Genomic DNA was extracted from peripheral blood. A Realtime PCR assay was developed using comparative threshold cycle (Ct) method for analysis of gene copy number. In addition, gene dosage was analyzed using MLPA method.Results: Real-time PCR results for quantitative analysis of Beta, Delta, G-gamma genes showed the ratio (2-DDCt) of 0.96 ± 0.18 for normal individuals and 0.58 ± 0.04 for carriers of deletions in beta globin gene cluster. MLPA results showed nearly 50% reductions in the height of the peaks corresponding to regions of deletions.Conclusions: MLPA results confirmed the presence of the same deletions detected by Real-time PCR in all of the carrier individuals. It would be ideal to combine these quantitative assays to confirm corresponding results for accurate diagnosis of known and unknown deletions in beta thalassemia carriers.

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APA: Copy

BABASHAH, S., JAMALI, SOMAYEH, MAHDIAN, R., HAYAT NOUSAEID, M., KARIMIPOUR, MORTEZA, MARYAMI, F., RAEISI, MARZIEH, ALI MOHAMMADI, RAHELEH, & ZEYNALI, SIROUS. (2009). ACCURATE DETECTION OF UNKNOWN DELETIONS IN BETA-GLOBIN GENE CLUSTER IN BETA THALASSEMIA CARRIERS USING REAL-TIME PCR AND MLPA. THE SCIENTIFIC JOURNAL OF IRANIAN BLOOD TRANSFUSION ORGANIZATION (KHOON), 5(4 (21)), 225-235. SID. https://sid.ir/paper/78569/en

Vancouver: Copy

BABASHAH S., JAMALI SOMAYEH, MAHDIAN R., HAYAT NOUSAEID M., KARIMIPOUR MORTEZA, MARYAMI F., RAEISI MARZIEH, ALI MOHAMMADI RAHELEH, ZEYNALI SIROUS. ACCURATE DETECTION OF UNKNOWN DELETIONS IN BETA-GLOBIN GENE CLUSTER IN BETA THALASSEMIA CARRIERS USING REAL-TIME PCR AND MLPA. THE SCIENTIFIC JOURNAL OF IRANIAN BLOOD TRANSFUSION ORGANIZATION (KHOON)[Internet]. 2009;5(4 (21)):225-235. Available from: https://sid.ir/paper/78569/en

IEEE: Copy

S. BABASHAH, SOMAYEH JAMALI, R. MAHDIAN, M. HAYAT NOUSAEID, MORTEZA KARIMIPOUR, F. MARYAMI, MARZIEH RAEISI, RAHELEH ALI MOHAMMADI, and SIROUS ZEYNALI, “ACCURATE DETECTION OF UNKNOWN DELETIONS IN BETA-GLOBIN GENE CLUSTER IN BETA THALASSEMIA CARRIERS USING REAL-TIME PCR AND MLPA,” THE SCIENTIFIC JOURNAL OF IRANIAN BLOOD TRANSFUSION ORGANIZATION (KHOON), vol. 5, no. 4 (21), pp. 225–235, 2009, [Online]. Available: https://sid.ir/paper/78569/en

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