木村病与穿孔素基因突变的研究

 目的 探讨木村病与穿孔素基因突变的关系,企图证实其发病机制是否与病毒感染有关.方法 从1例19岁男性木村病患者的外周血细胞提取DNA,将穿孔素主要功能区的外显子2、3和连接部位的内含子2的基因分成3段设计引物,应用PCR扩增然后进行测序分析.结果 患者穿孔素第2外显子扩增后测序发现R4C(rs12161733)、R22H杂合基因突变.结论 木村病是一种临床综合征,病毒感染导致穿孔素基因突变可能是本病发生机制之一.

A study of Kimura's disease and perforin mutation

Objective To present one ease of 19-year old man with Kimura＇s disease accompanied by nephrotie syndrome resulting from minimal change glomerulopathy and to study the relationship between Kimura＇ s disease and perforin gene mutation, Methods Genomic DNA was extracted from mononuelear cells in peripheral blood , 3 pairs of primers were designed for the amplification of the 2 coding exons of PRF1 and their flanking introns. PCR products were sequenced. Results Pefforin gene mutation R4C （rs12161733） and R22H were found in exon2. Conclusions Kimurag disease is a clinical syndrome; perforin mutation induced hy viral infection may play a role in the pathogenesis of Kimura＇ s disease.