应用遗传学分析方法诊断遗传性血小板减少综合征

Application genetics analysis methods diagnosis hereditary thrombocytopenia syndrome

目的对一血小板减少症伴巨型血小板家系进行遗传学分析,分析其基因突变位点,确定其发病机制。方法采用PCR与测序相结合的方法对血小板减少症家系进行遗传学分析。结果此家系为MYH9基因突变相关的常染色体显性遗传性血小板减少综合征。结论遗传学分析可以辅助确诊遗传性血小板减少综合征。

Objective ： To investigate a thrombocytopenia with giant platelet family by the genetics methods, analyzes the gene mu- tations, determine its pathogenesis. Method： Analyzing the thrombocytopenia tamily by Using PCR and sequencing target DNA. Re- suit： This family is for MYH9 gene mutations related autosomal dominant inherited thrombocytopenia syndrome. Conclusion： Applica- tion genetics analysis methods diagnosis hereditary thrombocytopenia syndrome.