THE MOLECULAR ANALYSIS OF ΒTHALASSEMIA MUTATIONS IN LORESTAN PROVINCE, IRAN

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KIANI A.A.; MORTAZAVI YOUSEF; ZEYNALI S.; SHIRKHANI Y.; DELFAN B.; KASHI M.

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Journal: Cell Journal (Yakhteh) Year:2006 | Volume:8 | Issue:2 (30) Page(s): 88-91

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Title

THE MOLECULAR ANALYSIS OF ΒTHALASSEMIA MUTATIONS IN LORESTAN PROVINCE, IRAN

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Keywords

BETA-THALASSEMIAQ2

MUTATIONQ2

IRANQ3

LORESTANQ2

Abstract

Introduction: To study the prevalence of most common b-thalassemia MUTATIONs in LORESTAN province and use the results for epidemiologic study and prenatal diagnosis of b_thalassemia major.Material and methods: 130 chromosomes from 65 unrelated homozygous b_thalassemia patients from LORESTAN province of IRAN (west-central) were investigated for b globin gene MUTATIONs by ARMS PCR.Results: Most common MUTATIONs of the Mediterranean region were examined in this study. We found a different MUTATION spectrum in IRAN compared to the data obtained by other authors. Our results showed that codons 36/37 (-T) with a frequency of 33.84% represented the most common MUTATION followed by the following four MUTATIONs in the Mediterranean region, IVS-II-1 (G-->A), IVS-I-110 (G-->A), frameshift codons (FSC) 8/9 (+G) and IVS-I-5 (G-->C) with frequencies 27.69%, 11.53%, 10.76% and 4.47% respectively. The less frequent alleles, IVS-II-745 (C-->G), Codon 5(-CT), IVS-I (25 bp deletion) and Frameshift CD44 (-C) with the following frequencies 1.59%, 0.76%, 0.76% and 0.76%, respectively, accounted for only 3.87% of the MUTATIONs. No MUTATIONs in Codon 30 (G-->C), Codon 39 (C-->T), IVS-I-6(T-->C) and IVS-I-1(G-->A), were detected. The unknown alleles were 7.63%.Conclusion: These data suggest that the pattern of MUTATIONs in LORESTAN province differs from those reported for the Mediterranean and other thalassemic regions in IRAN.

Cites

THE EVAIUATION OF CHALATOR THERAPY IN REDUCING SERUM FERRITIN AND IMPROVING EJECTION FRACTION (EF%) IN THALASSEMIC PATIENTS

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APA: Copy

KIANI, A.A., MORTAZAVI, YOUSEF, ZEYNALI, S., SHIRKHANI, Y., DELFAN, B., & KASHI, M.. (2006). THE MOLECULAR ANALYSIS OF ΒTHALASSEMIA MUTATIONS IN LORESTAN PROVINCE, IRAN. CELL JOURNAL (YAKHTEH), 8(2 (30)), 88-91. SID. https://sid.ir/paper/16456/en

Vancouver: Copy

KIANI A.A., MORTAZAVI YOUSEF, ZEYNALI S., SHIRKHANI Y., DELFAN B., KASHI M.. THE MOLECULAR ANALYSIS OF ΒTHALASSEMIA MUTATIONS IN LORESTAN PROVINCE, IRAN. CELL JOURNAL (YAKHTEH)[Internet]. 2006;8(2 (30)):88-91. Available from: https://sid.ir/paper/16456/en

IEEE: Copy

A.A. KIANI, YOUSEF MORTAZAVI, S. ZEYNALI, Y. SHIRKHANI, B. DELFAN, and M. KASHI, “THE MOLECULAR ANALYSIS OF ΒTHALASSEMIA MUTATIONS IN LORESTAN PROVINCE, IRAN,” CELL JOURNAL (YAKHTEH), vol. 8, no. 2 (30), pp. 88–91, 2006, [Online]. Available: https://sid.ir/paper/16456/en

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