苏北地区布-加综合征患者MPLW515L/K点突变测定研究

Investigation of MPLW515L /K point mutation in patients with Budd-Chiari syndrome of north Jiangsu

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。

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.