title: Spectrum of α-globin gene mutations in the Kerman Province of Iran.
abstract: Mutation of the α-globin gene may result in α-thalassemia (α-thal) which is characterized by a reduction or complete absence of the gene expression. In this study, 607 individuals with low levels of blood cell indices and normal Hb A(2) were referred to our laboratory for investigation of any α-thal mutations. We used the gap-polymerase chain reaction (gap-PCR) method and an α-globin strip assay kit to detect the mutation. Our results showed that -α(3.7) was the most common mutation (83.8%) in the overall mutated alleles of the α-globin gene. The second and third most frequent α-globin gene defects were codon 19 (α2) and IVS-I, -5 nt/αα (α2), 5.7 and 4.2%, respectively. We found that the spectrum of α-globin gene mutation in Kerman Province was in accordance with what was previously reported in other Iranian provinces where malaria has selected these protective traits.
authors.affiliation: Genetic Department, Kerman University of Medical Sciences, Kerman, Iran. n_salehgohari@kmu.ac.ir
authors.forename: Nasrollah
authors.initials: N
authors.lastname: Saleh-Gohari
authors.forename: Arezo
authors.initials: A
authors.lastname: Khosravi-Mashizi
mesh_terms: D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007492:Iran; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics
chemical_list: D055542:alpha-Globins