应用SSCP方法诊断遗传性血小板减少综合征

The diagnosis of hereditary thrombocytopenia syndrome through the application of SSCP method

目的:利用SSCP方法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结合SSCP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 meth- ods, analyze the gene mutations, and determine its pathogenesis. Method： Analyzing the thrombocytopenia family by using PCR and sequencing target DNA. Results： This family is for MYH9 gene mutations related au- tosomal dominant inherited thrombocytopenia syndrome. Conclusion： The application of genetic analysis can help to diagnose the hereditary thrombocytopenia syndrome.