Perforin gene mutations in 77 Chinese patients with lymphomas

作     者：Qi Ding Li-yun Yang 

作者机构：Department of HematologyPeking University First Hospital Department of Clinical LaboratoryGeneral Hospital of Armed Police 

出 版 物：《World Journal of Emergency Medicine》 (世界急诊医学杂志（英文）)

年 卷 期：2013年第4卷第2期

页      面：128-132页

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

基　　金：supported by the grants from the International S&T Cooperation Project from Ministry of Science&Technology of China(2006DFB31430) National 863 High-Tech Research and Development Program of China(2008AA02503) 

主　　题：Perforin Mutation Lymphoma 

摘      要：BACKGROUND:Perforin gene(PRF1) mutations have been reported in patients with lymphoma,but the prevalence and characteristics of PRF1 mutation have not been identified in Chinese patients with ***:Seventy-seven patients with lymphoma,including 6 patients with Hodgkin lymphoma and 71 patients with non-Hodgkin lymphoma,were *** samples from peripheral blood were used for PRF1 mutation detection by the PCR-sequencing ***:Eleven novel PRF1 mutations were found in 8 of the 77 patients with *** or compound monoallelic missense mutations in 3 patients indicated the severe impairment of perforin function,monoallelic missense mutations in 3 patients possibly contributed a genetic predisposition to malignancies,and synonymous mutations in 2 patients showed unknown ***:The frequency of EBV infection was similar in lymphoma patients with PRF1 mutations and those without the *** same PRF1 mutations were also found in DNA samples from nails or hair follicles from 4 patients with PRF1 mutations,suggesting that these mutations may be of germ-line origin.