Investigation of RFLP Haplotypes β-Globin Gene Cluster in Beta-Thalassemia Patients in Central Iran

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Sajadpour Zahra; Amini Farsani Zeinab; MOTOVALI BASHI MAJID; YADOLLAHI MITRA; Yadollahi Farrokh

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Journal: International Journal of Hematology-Oncology and Stem Cell Research Year:2019 | Volume:13 | Issue:2 Page(s): 61-67

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Title

Investigation of RFLP Haplotypes β-Globin Gene Cluster in Beta-Thalassemia Patients in Central Iran

Author(s)

Keywords

Haplotype

Beta-thalassemia

c.315+1G>A

c.92+5G>C

c.93-21G>A

Abstract

Introduction: Beta-thalassemia is one of the most prevalent inherited blood diseases among Iranians. The aim of this study was to elucidate the chromosomal background of Beta-thalassemia mutations in Esfahan province, Iran. Materials and Methods: In this study, we investigated three frequent mutations (c. 315+1G>A, c. 93-21G>A and c. 92+5G>C in β-globin gene, the frequency of RFLP Haplotypes, and LD between markers at β-globin gene cluster) in 150 Beta-thalassemia patients and 50 healthy individuals. The molecular and population genetic investigations were performed on RFLP markers HindIII in the c. 315+1G>A of Gγ (HindIIIG) and Aγ (HindIIIA) genes, AvaII in the c. 315+1G>A of β-globin gene and BamHI 3' to the β-globin gene. All statistical analyses were performed using Power Marker software and SISA server. Results: Fifty percent of beta-thalasemia patients were associated with these mutations. Haplotype I was the most prevalent Haplotype among Beta-thalassemia patients (39. 33%) and normal individuals (46%). The commonest c. 315+1G>A mutation in our population was tightly linked with Haplotype III (43. 75%) and Haplotype I (31. 25%). The second prevalent mutation, c. 92+5G>C, was 90%, 6. 66%, and 3. 33% in linkage disequilibrium with Haplotypes I, VII, and III, respectively. The c. 93-21G>A mutation indicated a strong association with Haplotype I (80%). Conclusion: Our study participants like Beta-thalassemia patients from Kermanshah province was found to possess a similar Haplotype background for common mutations. The emergence of most prevalent mutations on chromosomes with different Haplotypes can be explained by gene conversion and recombination. High linkage of a mutation with specific Haplotype is consistent with the hypothesis that chromosomes carrying Beta-thalassemia mutations experienced positive selection pressure, probably because of the protection against malaria experienced by Beta-thalassemia carriers.

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APA: Copy

Sajadpour, Zahra, Amini Farsani, Zeinab, MOTOVALI BASHI, MAJID, YADOLLAHI, MITRA, & Yadollahi, Farrokh. (2019). Investigation of RFLP Haplotypes β-Globin Gene Cluster in Beta-Thalassemia Patients in Central Iran. INTERNATIONAL JOURNAL OF HEMATOLOGY-ONCOLOGY AND STEM CELL RESEARCH (IJHOSCR), 13(2), 61-67. SID. https://sid.ir/paper/770834/en

Vancouver: Copy

Sajadpour Zahra, Amini Farsani Zeinab, MOTOVALI BASHI MAJID, YADOLLAHI MITRA, Yadollahi Farrokh. Investigation of RFLP Haplotypes β-Globin Gene Cluster in Beta-Thalassemia Patients in Central Iran. INTERNATIONAL JOURNAL OF HEMATOLOGY-ONCOLOGY AND STEM CELL RESEARCH (IJHOSCR)[Internet]. 2019;13(2):61-67. Available from: https://sid.ir/paper/770834/en

IEEE: Copy

Zahra Sajadpour, Zeinab Amini Farsani, MAJID MOTOVALI BASHI, MITRA YADOLLAHI, and Farrokh Yadollahi, “Investigation of RFLP Haplotypes β-Globin Gene Cluster in Beta-Thalassemia Patients in Central Iran,” INTERNATIONAL JOURNAL OF HEMATOLOGY-ONCOLOGY AND STEM CELL RESEARCH (IJHOSCR), vol. 13, no. 2, pp. 61–67, 2019, [Online]. Available: https://sid.ir/paper/770834/en

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