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Identification of a novel pre-terminating mutation in human HBB gene as a cause of β(0)-thalassemia phenotype
- Publication Year :
- 2019
- Publisher :
- e-Century Publishing Corporation, 2019.
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Abstract
- Beta (β)-thalassemia (thal) is one of the most common genetic disorders of hemoglobin synthesis worldwide. Most cases of β-thal are caused by point mutations in hemoglobin subunit beta (HBB) gene, and only a minority of cases are caused by missing mutations of HBB gene. In this study, a 31-year-old pregnant woman with a typical thal phenotype was admitted at Fujian Provincial Maternity and Children’s Hospital for prenatal diagnosis. Her father also presented with a typical thal phenotype, while the other members in the proband family were normal. Interestingly, Gap-PCR and reverse dot-blot hybridization assays showed that no mutation was found in the human HBA and HBB genes of the proband and her father. Subsequently, Sanger DNA sequencing identified a novel pre-terminating mutation, c.271 G>T [CD90 (GAG>TAG, Glu→stop codon)], in HBB gene from the proband and her father, while the other members in the proband family were normal. This mutation created a stop codon at amino acid 90 in exon 2 coding sequences of HBB gene, and led to a β(0)-thal phenotype. In summary, the present study is, to the best of our knowledge, the first to report a pre-terminating mutation, c.271 G>T [CD90 (GAG>TAG, Glu→stop codon)], in human HBB gene as a cause of β(0)-thal phenotype. This is important for clarifying the molecular mechanism of β(0)-thal and is useful for genetic counseling and prenatal screening.
- Subjects :
- Case Report
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.pmc...........ca99faafeff2141458abcc2801f51ff5