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Molecular analysis of a large novel deletion causing α+-thalassemia.
- Source :
- BMC Medical Genetics; 5/6/2019, Vol. 20 Issue 1, pN.PAG-N.PAG, 1p
- Publication Year :
- 2019
-
Abstract
- Background: α-thalassaemia is an inherited blood disorder caused by mutations in the α-globin gene cluster. Recognizing the pathogenic α-globin gene mutations associated with α-Thalassemia is of significant importance to thalassaemia's diagnosis and management. Methods: A family with α-thalassaemia from Fujian, China was recruited for this study. The phenotype was confirmed through haematological analysis. Commercially available Gap-PCR genotypic methods were employed to identify the known deletions causing α-thalassemia. MLPA analysis was used to study the novel mutations; this was then confirmed through DNA sequencing and bioinformatics analysis. Results: The proband of the family belonged to Southeast Asian type (--<superscript>SEA</superscript>) thalassaemia. None of the known mutations associated with α-thalassaemia were detected in this family's genetics, whereas a novel 6.9 kb deletion (16p13.3 g.29,785-36,746) covering the α2 gene on the globin gene cluster was identified with MLPA and confirmed through Sanger Sequencing. This data led us to propose a novel pathogenic deletion associated with α-thalassemia: -α<superscript>6.9</superscript> /--<superscript>SEA</superscript>. Conclusions: A novel α-thalassaemia deletion was identified in members of a Chinese family and subsequently analyzed. This finding has helped broaden the spectrum of pathogenic mutations leading to the development of α-thalassaemia, paving the way for improved disease diagnosis and management. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 14712350
- Volume :
- 20
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- BMC Medical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 136255124
- Full Text :
- https://doi.org/10.1186/s12881-019-0797-8