抗凝血酶基因13389G缺失导致的Ⅰ型抗凝血酶缺乏症

Type Ⅰ antithrombin deficiency due to 13389G deletion in antithrombin gene

目的 对一先天性Ⅰ型抗凝血酶缺乏症家系进行基因突变的检测。方法 用PCR法对先证者抗凝血酶基因的 7个外显子及其侧翼内含子序列进行扩增 ,PCR产物纯化后直接测序 ,检测其基因突变。结果 先证者表现为抗凝血酶基因外显子 6区 13389G缺失 ,引起移码突变。结论 该突变是先天性抗凝血酶缺乏症的一个新的突变位点 ,可以导致血栓形成。

Objective To identify the gene mutation of a kindred with type Ⅰ antithrombin deficiency. Methods All of the seven exons and intron exon boundaries of antithrombin gene were analysed by PCR and direct sequencing of amplified PCR products from the propositus. Results A 13389G deletion in exon 6 was characterized in propositus, and this mutation led to frameshift. Conclusion This is a novel mutation ,which can cause antithrombin deficiency and thrombosis.