Kaposi肉瘤组织中lyn基因的表达分析

目的 探讨Peutz-Jeghers综合征2个家系及3例散发病例外周血及息肉组织STK11基因的突变。方法 PCR扩增STK11基因前8个外显子及侧翼序列，进行DNA直接测序。结果 家系1所有患者息肉组织STK11基因的外显子8检测到1个新杂合突变，第2039位碱基鸟嘌呤被胞嘧啶替代，导致308位氨基酸由色氨酸（W）转变为半胱氨酸（C），即W308C错义突变；外周血未检测到此突变位点。家系1所有患者外周血STK11基因的内含子2第12703碱基检测到1个新突变，该处发生A→G替换突变；息肉组织未检测到此突变位点。家系2所有患者外周血STK11基因的内含子7第16215碱基存在G→C杂合突变，已被前人证实为SNP。3例散发病例中未检测到突变位点。结论 STK11基因G2039C突变可能是部分Peutz-Jeghers综合征患者发病的遗传基础。

Expression of lyn gene in Kaposi's sarcoma

Objective To analyse the expression of lyn gene in Kaposi's sarcoma(KS).Methods Immunohistochemical method(Envision)was used to detect the protein expression of lyn in tissue samples from 17 patients with KS and 17 normal human controls, and real-time PCR to measure the mRNA expression of lyn in fresh specimens from the tumor and adjacent normal tissues of 5 patients with KS.Results The lyn protein was cytoplasmically expressed in 17(100%)patients with KS and 2(11.8%)normal controls(x~2 =27.57, P ＜ 0.01).The expression intensity of lyn mRNA was significantly higher in fresh tumor tissues than in adjacent normal tissues(t = 2.82, P ＜ 0.05).Conclusion The abnormal expression of lyn may play an important role in the development of KS.