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.
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。