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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...

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Autores principales: Zhuang, Jianlong, Tian, Jie, Wei, Jitao, Zheng, Yu, Zhuang, Qianmei, Wang, Yuanbai, Xie, Qingyue, Zeng, Shuhong, Wang, Geng, Pan, Yanchao, Jiang, Yuying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
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.
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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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