Haplotypes inside the beta-globin gene: Use as new biomarkers for beta-thalassemia prenatal diagnosis in north of Iran

Hashemi-Soteh, M. B. and Mousavi, S. S. and Tafazoli, A. (2017) Haplotypes inside the beta-globin gene: Use as new biomarkers for beta-thalassemia prenatal diagnosis in north of Iran. Journal of Biomedical Science, 24 (1).

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Background: Beta-thalassemia is common in the Mediterranean area as well as the Middle East and India. Official report in Iran revealed the average prevalence rate of carriers about 4. More than 20 restriction fragment length polymorphisms (RFLPs) are known in the beta-globin gene cluster and used in the prenatal diagnosis (PND) services. Some of these locations may have low allele frequency and are not informative in the prenatal diagnosis. The current study aims to find new haplotypes and polymorphisms with high allele frequency in the local population. Methods: Two thousand three hundred fifty samples (1,321 male and 1,029 female) from the northern Iran, whom suspected to be the carriers either for alpha or beta thalassemia and referred to the local diagnostic laboratory as a routine services were investigated during five years, (2010-2015). The beta-globin gene was sequenced for all samples. Results: Heterozygosity for five SNPs in the beta-globin gene was calculated separately. 383 individuals (16.29) showed no sign of nucleotide change in the beta-globin gene sequence. In total, codon2 (C/T) 31.72, IVSII-16 (C/G) 31.72, IVSII-74 (G/T) 54.71, IVSII-81 (C/T) 19.47, and IVSII-666 (T/C) 31.72 were seen respectively. Although all five polymorphisms showed reasonably high heterozygosity, IVSII-74 (G/T) GG wild type (36.5%), G/T (54.71%) and TT (8.8%) revealed the highest heterozygosity rate. Four combinations of these five SNPs were defined as new haplotypes named M1 to M4. ARMS-PCR also were designed and applied to detect IVSII-74 (G/T) nucleotide position. Conclusions: This study represents an intragenic polymorphism, IVSII-74, a reliable position with high heterozygosity rates in Iranian population for PND analysis. Trial registration: Retrospectively registered. © 2017 The Author(s).

Item Type: Article
Additional Information: Export Date: 16 February 2020 CODEN: JBCIE Correspondence Address: Hashemi-Soteh, M.B.; Immunogenetic Research Center, Molecular and Cell Biology Research Center, Medical Faculty, Mazandaran University of Medical SciencesIran; email: hashemisoteh@mazums.ac.ir
Uncontrolled Keywords: Beta-globin gene Beta-thalassemia Haplotypes Mazandaran Prenatal diagnosis DNA hemoglobin beta chain biological marker Article beta globin gene beta thalassemia codon cross-sectional study DNA extraction female gene gene frequency gene mutation gene sequence genetic linkage genetic screening haplotype heterozygosity human Iran major clinical study male nucleotide motif polymerase chain reaction priority journal retrospective study single nucleotide polymorphism blood genetic polymorphism genetics pregnancy procedures beta-Globins Biomarkers Cross-Sectional Studies Humans Polymorphism, Genetic
Subjects: WH Hemic and Lymphatic System
QU Biochemistry
Divisions: Mashhad University of Medical Sciences
Depositing User: mr lib3 lib3
Date Deposited: 29 Apr 2020 04:49
Last Modified: 29 Apr 2020 04:49
URI: http://eprints.mums.ac.ir/id/eprint/16851

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