title: A novel promoter mutation (HBB: c.-75G>T) was identified as a cause of β(+)-thalassemia.
abstract: We report a novel β-globin gene promoter mutation in a Chinese family identified using fluorescence resolution melting curve analysis and gene sequencing. The proband, who showed the phenotype of β-thalassemia intermedia (β-TI), was found to be a compound heterozygote for the novel mutation -25 (G>T) (HBB: c.-75G>T) and a codon 17 (HBB: c.52A>T) mutation. Moreover, conservation analysis using phyloP and phastCons indicated that the mutated base in the proband was conserved. This novel point mutation on the β-globin gene is in close proximity to the conserved ATAA sequence located at position -25 relative to the mRNA Cap site. We performed a further comparative analysis of the clinical phenotypes and hematological parameters in this pedigree and found that the father was a carrier of the novel point mutation and showed low levels of hemoglobin (Hb), mean corpuscular volume (MCV) and mean corpuscular Hb (MCH). Thus, the available evidence suggests that this novel mutation, -25, results in β(+)-thalassemia (β(+)-thal).
authors: Biological Experiment Center, the Second People's Hospital of Guangdong Province , Guangzhou, Guangdong Province , People's Republic of China.
authors: Zeyong
authors: Z
authors: Li
authors: Lei
authors: L
authors: Li
authors: Yachao
authors: Y
authors: Yao
authors: Nan
authors: N
authors: Li
authors: Yahong
authors: Y
authors: Li
authors: Zhen
authors: Z
authors: Zhang
authors: Fang
authors: F
authors: Yan
authors: Houkuang
authors: H
authors: Qiu
authors: Chunyan
authors: C
authors: Wu
authors: Zhi
authors: Z
authors: Zhang
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D003062:Codon; D004252:DNA Mutational Analysis; D004909:Erythrocyte Indices; D005260:Female; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011401:Promoter Regions, Genetic; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D003062:Codon; D055544:beta-Globins
keywords: promoter mutation; β-Globin gene; β-thalassemia (β-thal)