β-珠蛋白基因新突变导致的β-珠蛋白生成障碍性贫血

A Novel Mutation in β-Globin Gene of a Patient with β-thalassemia

本研究对1例轻型β-珠蛋白生成障碍性贫血患者的β-珠蛋白基因进行序列分析,寻找基因的致病突变。提取患者外周血基因组DNA,扩增全长β-珠蛋白基因,然后对扩增产物进行DNA测序。结果显示,患者的β-珠蛋白基因1号内含子存在杂合IVS-I-129(A→G)突变。结论:IVS-I-129(A→G)突变为剪接突变使未成熟的β-珠蛋白基因mRNA产生剪接异常,导致其后的β-珠蛋白基因翻译错误。该突变为首次报道。

This study was aimed to analyze the β-globin gene mutations in a patient with β-thalassemia minor.Genomic DNA was extracted from peripheral blood cells of the patient.The full-length DNA sequence coding for β-globin was amplified by polymerase chain reaction,and the gene mutation was determined by DNA sequencing.The results indicated that a heterogeneous A→G mutation was found at position 129 in intron 1 of the β-thalassemia minor patient.It is concluded that the IVS-I-129（A→G） mutation is a splicing site mutation leading to a splicing error in immature messenger RNA and a protein translation error for the β-globin gene.Thus,the IVS-I-129（A→G） is a novel mutation.