title: Identification of three novel mutations [-41 (A>C), codon 24 (-G), and IVS-I-109 (-T)], in a study of beta-thalassemia alleles in the Isfahan region of Iran.
abstract: Beta-thalassemia (beta-thal) is one of the most common autosomal recessive disorders in Iran, with more than 15,000 registered cases of thalassemia major in the country. Iran has a multiethnic society and knowledge of the mutation spectrum and regional distribution is an essential requirement for health planning and a prenatal diagnosis program. We have determined the spectrum of mutations in patients from the Isfahan region of Iran. A study of 190 chromosomes revealed 24 different mutations, including three novel ones: -41 (A>C), IVS-I-109 (-T) and codon 24 (-G). The most common mutation was IVS-II-1 (G>A) (20.5%), followed by IVS-I-5 (G>C) (11%). The findings for the Isfahan region confirm the extremely heterogeneous nature of the molecular basis of beta-thal in Iran. The results show that a strategy of using the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) for 14 of the most common mutations and DNA sequencing for the rare mutations can be used for prenatal diagnosis of beta-thal in this region.
authors.affiliation: Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran. r_salehi@med.mui.ac.ir
authors.forename: Rasoul
authors.initials: R
authors.lastname: Salehi
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Fisher
authors.forename: Patricia A
authors.initials: PA
authors.lastname: Bignell
authors.forename: Gilda
authors.initials: G
authors.lastname: Eslami
authors.forename: John M
authors.initials: JM
authors.lastname: Old
mesh_terms: D000483:Alleles; D003062:Codon / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D007492:Iran; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D003062:Codon; D055544:beta-Globins