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Molecular analysis of a large novel deletion causing α(+)-thalassemia
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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501318/ https://www.ncbi.nlm.nih.gov/pubmed/31060505 http://dx.doi.org/10.1186/s12881-019-0797-8 |
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author | Zhuang, Jianlong Tian, Jie Wei, Jitao Zheng, Yu Zhuang, Qianmei Wang, Yuanbai Xie, Qingyue Zeng, Shuhong Wang, Geng Pan, Yanchao Jiang, Yuying |
author_facet | Zhuang, Jianlong Tian, Jie Wei, Jitao Zheng, Yu Zhuang, Qianmei Wang, Yuanbai Xie, Qingyue Zeng, Shuhong Wang, Geng Pan, Yanchao Jiang, Yuying |
author_sort | Zhuang, Jianlong |
collection | PubMed |
description | 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 (--(SEA)) 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(6.9) /--(SEA). 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. |
format | Online Article Text |
id | pubmed-6501318 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-65013182019-05-10 Molecular analysis of a large novel deletion causing α(+)-thalassemia Zhuang, Jianlong Tian, Jie Wei, Jitao Zheng, Yu Zhuang, Qianmei Wang, Yuanbai Xie, Qingyue Zeng, Shuhong Wang, Geng Pan, Yanchao Jiang, Yuying BMC Med Genet Research Article 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 (--(SEA)) 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(6.9) /--(SEA). 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. BioMed Central 2019-05-06 /pmc/articles/PMC6501318/ /pubmed/31060505 http://dx.doi.org/10.1186/s12881-019-0797-8 Text en © The Author(s). 2019 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Article Zhuang, Jianlong Tian, Jie Wei, Jitao Zheng, Yu Zhuang, Qianmei Wang, Yuanbai Xie, Qingyue Zeng, Shuhong Wang, Geng Pan, Yanchao Jiang, Yuying Molecular analysis of a large novel deletion causing α(+)-thalassemia |
title | Molecular analysis of a large novel deletion causing α(+)-thalassemia |
title_full | Molecular analysis of a large novel deletion causing α(+)-thalassemia |
title_fullStr | Molecular analysis of a large novel deletion causing α(+)-thalassemia |
title_full_unstemmed | Molecular analysis of a large novel deletion causing α(+)-thalassemia |
title_short | Molecular analysis of a large novel deletion causing α(+)-thalassemia |
title_sort | molecular analysis of a large novel deletion causing α(+)-thalassemia |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501318/ https://www.ncbi.nlm.nih.gov/pubmed/31060505 http://dx.doi.org/10.1186/s12881-019-0797-8 |
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