ArticleJournal of clinical pathology2005
A novel frameshift mutation (+G) at codons 15/16 in a beta0 thalassaemia gene results in a significant reduction of beta globin mRNA values.
Article in Journal of clinical pathology, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 15 citations in OpenAlex.
- An Integrated Genotyping Strategy for α/β-Thalassemia: Based on the Analysis of the Coding Sequences and Expression Levels of HBA2, HBA1, and HBB in Peripheral Blood mRNA.Journal of clinical laboratory analysis · 2026Article
- Five novel globin gene mutations identified in five Chinese families by next-generation sequencing.Molecular genetics & genomic medicine · 2021Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsTo identify a novel beta globin gene mutation found in a Chinese family, and also to assess its functional consequences.
methodsHaematological analysis was performed on all family members. The 23 common mutations of beta thalassaemia found in Chinese populations were detected by means of a reverse dot blot method. Direct DNA sequencing of polymerase chain reaction (PCR) amplified complete beta globin gene was carried out to identify the novel mutation. A real time, one step reverse transcription PCR assay was used to measure beta globin mRNA in the reticulocytes of heterozygous patients.
resultsA novel frameshift mutation-an insertion of G between codons 15 and 16 in a homonucleotide run of four guanines-was determined, which generates a new premature chain terminator at the 22nd codon. Relative quantitative analysis of the beta globin mRNA in heterozygous subjects demonstrated a 39.83% reduction compared normal controls.
conclusionsThe significantly lower amounts of beta globin mRNA found in mutation carriers is probably caused by the rapid nonsense mediated degradation of the mutant mRNA. These data, combined with haematological analysis, suggest that this novel mutation of CDs 15/16 (+G) results in a beta(0) thalassaemia phenotype.
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