Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ahvaz Jundishapur University of Medical Sciences

Evaluation of alpha-Globin Gene Mutations Among Different Ethnic Groups in Khuzestan Province, Southwest Iran

Khosravi, A. and Jalali-Far, M. and Saki, N. and Hosseini, H. and Galehdari, H. and Kiani-Ghalesardi, O. and Paridar, M. and Azarkeivan, A. and Magaji-Hamid, K. (2016) Evaluation of alpha-Globin Gene Mutations Among Different Ethnic Groups in Khuzestan Province, Southwest Iran. Hemoglobin, 40 (2). pp. 113-117. ISSN 0363-0269

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Official URL: <Go to ISI>://WOS:000371802500006

Abstract

alpha-Thalassemia (-thal) is one of the most common inherited hemoglobin (Hb) disorders in the world. In addition to large deletions, over 50 different -thal point mutations were detected around the world, thus, patients showed different phenotypes with regard to genotype. This study evaluated the genetic frequency of -thal in Khuzestan Province, Southwest Iran, to help implement premarital and prenatal screening programs. The study was conducted on couples proposing to get married and parents who were referred to the genetic center of Shafa Hospital, Ahvaz, Iran, for prenatal diagnosis (PND) in 2012. Genomic DNA was purified by the salting-out method and tested using multiplex gap-polymerase chain reaction (gap-PCR), amplification refractory mutation system-PCR (ARMS-PCR), reverse hybridization test strips and DNA sequencing. Overall, 11 mutations were found on the -globin genes. Based on gene frequency, the most common mutant allele was -(3.7) (rightward) (71.3) followed by the two gene deletion - -(MED) (9.7). Other common mutations were (codon 19) (GCG>GC-, 2) (8.4), the polyadenylation (polyA1) site (polyA1) (AATAAA>AATAAG) (2.8), and (-5 nt) (-TGAGG) (2.0). In addition, an extremely rare mutation at (codon 21) Hb Fontainebleau, HBA2: c.64G>C (or HBA1) was also found. The results of this study are critical for correct diagnosis of -thal carriers, premarriage counseling and PND. This study suggests that the distribution of mutations on the -globin genes differs among the ethnic groups in Khuzestan Province as well as in other provinces.

Item Type: Article
Keywords: alpha-globin gene mutation alpha-thalassemia (alpha-thal) iran khuzestan thalassemia mutations hb fontainebleau north iran hemoglobin population prevalence variants spectrum deletion
Subjects: R Medicine > R Medicine (General)
Divisions: Faculty of Medicine, Health and Life Sciences
Depositing User: مهندس مهدی شریفی
Last Modified: 01 Jun 2018 11:30
URI: http://eprints.ajums.ac.ir/id/eprint/15354

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