title: The molecular analysis of beta-thalassemia mutations in Lorestan Province, Iran.
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 (FSC) 36/37 (-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), FSC 8/9 (+G) and IVS-I-5 (G -->C) with frequencies of 27.7, 11.5, 10.8 and 4.5%, respectively. The less frequent alleles, IVS-II-745 (C -->G), FSC 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.
authors.affiliation: Department of Hematology, Lorestan University of Medical Sciences, Khorramabad, Iran.
authors.forename: Ali Asghar
authors.initials: AA
authors.lastname: Kiani
authors.forename: Yousef
authors.initials: Y
authors.lastname: Mortazavi
authors.forename: Sirous
authors.initials: S
authors.lastname: Zeinali
authors.forename: Yaghob
authors.initials: Y
authors.lastname: Shirkhani
mesh_terms: D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D005787:Gene Frequency; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007492:Iran / Q000453:epidemiology; D017720:Molecular Epidemiology; D009154:Mutation; D017354:Point Mutation; D015995:Prevalence; D017384:Sequence Deletion; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D005914:Globins