Repository of Research and Investigative Information

Repository of Research and Investigative Information

دانشگاه علوم پزشکی و خدمات بهداشتی درمانی زنجان

The molecular analysis of beta-thalassemia mutations in Lorestan Province, Iran

(2007) The molecular analysis of beta-thalassemia mutations in Lorestan Province, Iran. HEMOGLOBIN. pp. 343-349.

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Abstract

beta-Thalassemia (thal) is one of the most common genetic disorders in Iran and other countries. Getting information on the distribution of mutations in different ethnic groups of Iran is of fundamental importance for the purpose of health planning and prenatal diagnosis programs. One hundred and thirty chromosomes from 65 unrelated homozygous beta-thal patients were investigated for)beta-globin gene mutations by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). The most common mutations of the Mediterranean region were examined in this study. Our results showed that the frameshift codons (MC) 36137 (-T) mutation, with a frequency of 33.8 %, is the most common mutation in Lorestan Province. The other most frequent mutations were of the Mediterranean type and consisted of IVS-II-1 (G -> A), IVS-I-110 (G -> A), MC 819 ((+)G) and IVS-I-5 (G -> C) with frequencies of 2 7.7, 11.5, 10.8 and 4.5 %, respectively. The less frequent alleles, IVS-II-745 (C -> G), MC 5 (-CT), IVS-I (25 bp deletion) and FSC 44 (-C accounted for only 3.9% of the mutations. The unknown alleles comprised 7.7% of the mutations. These data showed that the spectrum of mutations found in Lorestan Province was different from those reported from other thalassemic regions of Iran and also of some neighboring countries.

Item Type: Article
Keywords: beta-thalassemia (thal); amplification refractory mutation system-polymerase chain reaction (ARMS-PCR); mutation; Iran; Lorestan Province
Page Range: pp. 343-349
Journal or Publication Title: HEMOGLOBIN
Abstract and Indexing: ISI, Pubmed, Scopus
Quartile : Q4
Volume: 31
Number: 3
Publisher: web of science
Depositing User: خانم مریم زرقانی
URI: http://repository.zums.ac.ir/id/eprint/926

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