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Five novel globin gene mutations identified in five Chinese families by next-generation sequencing.

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机构: [1]Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province, Kunming, Yunnan, China [2]Department of Obstetrics and Gynecology, Yunnan Provincial Clinical Research Center for Birth Defects and Rare Diseases, The First People’s Hospital of Yunnan Province, Kunming, Yunnan, China [3]Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China [4]Department of Hematology, The First People’s Hospital of Yunnan Province, Kunming, Yunnan, China [5]BGI Genomics, BGI-Shenzhen, Shenzhen, Guangdong, China
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关键词: bioinformatics analysis next-generation sequencing pathogenicity thalassemia

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Thalassemia is one of the most common inherited diseases worldwide. This report presents three novel cases of α-thalassemia and two novel cases of β-thalassemia caused by five different mutations in the globin gene.Next-generation sequencing (NGS) was used to identify novel α- and β-thalassemia in five individuals, which was confirmed by Sanger sequencing of the globin gene. Hematological parameters were determined by an automated cell counter, and hemoglobin electrophoresis was carried out by a capillary electrophoresis system, respectively. The isoelectric point (pI), molecular weight, and conservation for the mutations were described by the Internet software programs. The pathogenicity for globin mutations was analyzed by bioinformatics analysis and relative quantitative analysis.NGS revealed five novel cases of α- and β-thalassemia: HBA2:c.245C>T, HBA2:c.95+11_95+34delCTCCCCTGCTCCGACCCGGGCTCC, HBA2:c.54delC, HBB:c.373C>A, and HBB:c.40G>A. The clinical implications of these mutations were described. Computational predictions were made for pI, amino acid conservation, and pathogenicity of the missense mutation. Relative quantitative data of the α-globin mRNA were analyzed.Five novel globin mutations were identified in the populations of China, and those mutations were analyzed to provide a mechanistic view for their pathogenicity. These analyzed results improve genetic diagnostics for thalassemia, which can improve screening programs for thalassemia and prenatal diagnosis for Chinese population.© 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.

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出版当年[2021]版:
大类 | 4 区 医学
小类 | 4 区 遗传学
最新[2023]版:
大类 | 4 区 医学
小类 | 4 区 遗传学
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出版当年[2020]版:
Q3 GENETICS & HEREDITY
最新[2023]版:
Q4 GENETICS & HEREDITY

影响因子: 最新[2023版] 最新五年平均 出版当年[2020版] 出版当年五年平均 出版前一年[2019版] 出版后一年[2021版]

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第一作者机构: [1]Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province, Kunming, Yunnan, China [2]Department of Obstetrics and Gynecology, Yunnan Provincial Clinical Research Center for Birth Defects and Rare Diseases, The First People’s Hospital of Yunnan Province, Kunming, Yunnan, China [3]Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China [4]Department of Hematology, The First People’s Hospital of Yunnan Province, Kunming, Yunnan, China
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通讯机构: [1]Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province, Kunming, Yunnan, China [2]Department of Obstetrics and Gynecology, Yunnan Provincial Clinical Research Center for Birth Defects and Rare Diseases, The First People’s Hospital of Yunnan Province, Kunming, Yunnan, China [3]Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China [*1]Department of Medical Genetics, the First People’s Hospital of Yunnan Province, Kunming, China. [*2]Department of Medical Genetics, the First People’s Hospital of Yunnan Province, Kunming, China.
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