Reflections on the CAP+40-+43(-AAAC) mutation in β-thalassemia screening

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-01-29 DOI:10.1016/j.genrep.2025.102151

Houlang Wen, Riling Chen, Yajun Wang

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Abstract

Genetic screening for the CAP+40-+43 (-AAAC) mutation within the 5' untranslated region of the Hemoglobin Subunit Beta(HBB) gene is a typical component of β-thalassemia prevention and diagnosis. This mutation is known for its unpredictable phenotypic expression and controversial pathogenicity. This review comprehensively synthesizes decades of research, analyzing the genetic and clinical implications of the CAP+40-+43 (-AAAC) mutation and elucidating its underlying molecular mechanisms. We conducted an extensive literature review from 1980 to 2024, using PubMed and Chinese databases, focusing on all studies related to this specific mutation, including epidemiological surveys, case studies, and recent genetic findings. The results from populations in mainland China and Taiwan suggest that the CAP+40-+43 (-AAAC) mutation should not be considered inherently pathogenic but may contribute to variability in disease phenotype among individuals. Further detailed research is needed to better understand its role in β-thalassemia. Future studies should aim to identify the exact molecular pathways influenced by this mutation and develop intervention strategies that could alleviate its clinical impact, thus enhancing our comprehensive understanding of its biological significance.

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.