Heterozygosis deficit of polymorphic markers linked to the β-globin gene cluster region in the Iranian population

Publish Year: 1394
نوع سند: مقاله ژورنالی
زبان: English
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شناسه ملی سند علمی:

JR_IJBMS-18-6_007

تاریخ نمایه سازی: 3 آبان 1400

Abstract:

Objective(s): Iran is considered as one of the high-prevalence areas for β-thalassemia with a rate of about ۱۰% carrier frequency. Molecular diagnosis of the disease is performed both by direct sequencing and indirectly by the use of polymorphic markers present in the beta globin gene cluster. However, to date there is no reliable information on the application of the markers in the Iranian population. Here we report the results of an extended molecular analysis of five RFLP markers, XmnI, HindIIIA, HindIIIG, RsaI and HinfI, located within the β-globin gene cluster region in four subpopulations of Iran. Materials and Methods:A total of ۵۵۲ blood samples taken from the Iranian subpopulations including Isfahan, Chaharmahal-O-Bakhtiari, Khuzestan and Hormozgan were genotyped using PCR-RFLP and sequencing. The allele frequency, the expected and observed heterozygosity, and Shannon's information index (I) of these markers were calculated. Results:Distribution of the allele frequencies for XmnI, HindIIIA, HindIIIG, RsaI and HinfI polymorphic markers did not differ significantly among the subpopulations examined. Overall observed heterozygosity ranged from ۰.۱۷۰۶ for HindIIIA to ۰.۴۴۸۴ for RsaI. The Shannon index was Conclusion:The results suggested that genotyping of these markers is not informative enough once used as single markers for prenatal diagnosis and carrier detection of β-thalassemia in the Iranian population. However, haplotyping of these markers may provide more useful data in linkage analysis and prenatal diagnosis as well as carrier detections for β-thalassemia in Iranians.

Keywords:

β-globin gene cluster region , β-thalassemia , Iranian Population , Polymorphic markers

Authors

Tahereh Moradi

Division of Genetics, Department of Biology, Faculty of Science, University of Isfahan, Isfahan, Iran

Reihaneh Vallian

Molecular Genetics Department, Isfahan Medical Genetics Center, Isfahan, Iran

Zahra Fazeli

Department of Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Asieh Haghighatnia

Molecular Genetics Department, Isfahan Medical Genetics Center, Isfahan, Iran

Sadeq Vallian

Division of Genetics, Department of Biology, Faculty of Science, University of Isfahan, Isfahan, Iran

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