Blog
About

30
views
0
recommends
+1 Recommend
1 collections
    1
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Molecular genetic characteristics of a family with rare CD–90 (C>T) β-thalassemia mutation

      Read this article at

      ScienceOpenPublisher
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Objective To investigate of molecular genetic characteristics of a family with rare CD–90(C>T) β – thalassemia mutation.

          Methods Hematological cytoanalyzer and automatic electrophoretic analysis system were used to analyze the phenotype. Conventional α and β thalassemia genes were detected by flow–through hybridization. Multiplex ligation–dependent probe amplification (MLPA), DNA sequencing and gap PCR(Gap–PCR) were used to analyze the rare genotypes.

          Results A rare type of β–thalassemia with CD–90(C>T) mutation was detected in the proband, his mother and his younger sister. β–thalassemia with CD41/42 gene mutation was detected in proband’s wife. The proband’s father did not detect the gene mutation of the thalassemia.

          Conclusion This study found that 3 cases of β–thalassemia with CD–90(C>T) mutation showed clinical and hematological manifestations same as β thalassemia carriers, enriching the gene profile and clinical phenotype information of Chinese rare thalassemia. The rare CD–90(C>T) β gene mutation in the proband was derived from his mother.

          Abstract

          摘要: 目的 对一例在中国人群中罕见的CD-90 (C>T) β 地中海贫血突变进行家系分子遗传学特征分析。 方法 地贫血液学指标采用血细胞分析仪及电泳分析仪进行分析; 常规α和β地中海贫血基因采用导流杂交法进行分析; 罕见地贫基因型采用DNA测序、多重链接探针扩增技术 (MLPA) 、缺口PCR (Gap-PCR) 技术进行分析。 结果 检测到先证者、其母亲及其胞妹为中国人罕见的CD-90 (C>T) β地中海贫血; 先证者妻子检测到CD41-42突变β地中海贫血; 先证者父亲未检测到地贫基因突变。 结论本研究发现一个家系3例罕见CD-90 (C>T) β地贫, 确认了先证者罕见的CD-90 (C>T) β基因突变遗传来源于其母亲。3例罕见CD-90 (C>T) β地贫均表现为轻型β地贫的临床和血液学特征, 丰富了中国人群罕见地贫的基因谱及临床表型信息。

          Related collections

          Author and article information

          Journal
          CTM
          China Tropical Medicine
          China Tropical Medicine (China )
          1009-9727
          01 December 2019
          01 January 2020
          : 19
          : 12
          : 1145-1148
          Affiliations
          1Department of Laboratory Center, Hui Zhou Municipal Central Hospital, Huizhou, Guangdong 516001, China
          Author notes
          *Corresponding author: WANG Xin, E-mail: wangxin841009@ 123456163.com
          Article
          j.cnki.46-1064/r.2019.12.10
          10.13604/j.cnki.46-1064/r.2019.12.10
          © 2019 Editorial Department of China Tropical Medicine

          This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 Unported License (CC BY-NC 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. See https://creativecommons.org/licenses/by-nc/4.0/.

          Product
          Self URI (journal page): http://www.cntropmed.com
          Categories
          Journal Article

          Comments

          Comment on this article