苏北地区布-加综合征患者MPLW515L/K点突变测定研究

摘要

Objective To explore MPLW515L/Kpoin mutation in patients with Budd-Chiari syndrome (BCS) in northern jiangsu, to provide evidences for the research of pathogenesis , diagnosis and treatment. Methods Peripheral blood of 102 patients with Budd-Chiari syndrome and 102 healthy controls were collected , DNA were extracted from peripheral blood, the mutations of MPLW515L/K were detected by specific allele polymerase chain reaction (AS-PCR) and gene sequencing. Results The mutation of MPLW515L/K in all 102 cases of BCS and 102 cases of healthy controls was not found. Conclusion BCS has no correlation with the mutation of MPLW515L.%目的:探究在苏北地区布-加综合征(BCS)患者MPLW515L/K的突变情况,为发病机制的研究,疾病的诊断和治疗提供依据.方法:收集102例BCS患者和102例健康对照者外周血,从全血中提取DNA,采用等位基因特异性聚合酶链式反应(AS-PCR)及基因测序方法检测MPLW515L/K的突变情况.结果:102例BCS病例组及102例健康对照均未发现MPLW515L/K的突变.结论:BCS发病可能与MPLW515L/K的突变没有相关性.