Jak2基因多态性与儿童急性淋巴细胞白血病遗传易感性的研究  

Correlation of jak2 gene polymorphisms with the generic susceptibility of children acute lymphoblastic leukemia

作　　者：张海艳[1] 翟晓文[1] 王宏胜[1] 范翠青[1] 钱晓文[1] 苗慧[1] 俞懿[1] 朱晓华[1] 李军[1] 陆凤娟[1] 吴玥[1] 

机构地区：[1]复旦大学附属儿科医院血液科,上海201102

出　　处：《世界临床药物》2015年第9期631-635,644,共6页World Clinical Drug

基　　金：上海市人才发展基金(2012051);上海市卫生局局级课题面上项目(20124116)

摘　　要：目的探讨jak2基因多态性与中国汉族儿童急性淋巴细胞白血病(ALL)遗传易感性的相关性以及儿童ALL的发病因素。方法采用SNa Pshot SNP分型技术检测141例ALL患儿(病例组)和239例健康儿童(对照组)的10个单核苷酸多态性位点(SNP),包括rs10974944、rs10974947、rs12343867、rs2230722、rs2230724、rs2274472、rs4495487、rs56118985、rs6476933和rs7046736,比较两组儿童基因型特征。结果病例组rs10974947位点G/A+A/A的分布明显低于对照组,G/G基因型分布显著高于对照组(χ2=5.042,P=0.025)。结论 jak2基因rs10974947位点G/G基因型与中国汉族儿童急性淋巴细胞白血病易感性相关。Objective To investigate the correlation ofjak2 gene polymorphisms with the generic susceptibility of acute lymphoblastic leukemia （ALL） in Chinese Han population and to explore the risk factors of children suffered from ALL. Methods One hundred and fourty-one ALL cases （patient group） and two hundred and thirty-nine healthy children （control group） were tested for the genotypes sequence of 10 single nucleotide polymorphisms （SNPs） in jak2 gene by SNaPshot SNP technique, including rs 10974944, rs 10974947, rs 12343867, rs2230722, rs2230724, rs2274472, rs4495487, rs56118985, rs6476933 and rs7046736. The different genotype frequencies of 10 SNPs in both groups were analyzed. Results The frequency of rs 10974947 GA ＋ AA genotypes in patient group was significantly lower than that in control group, while the frequency of G/G genotype in patients was significantly higher than that in controls 0（2=5.042, P=0.025）. Conclusion rs 10974947 G/G genotype in jak2 gene is associated with susceptibility to children ALL in Chinese Han population.

关 键 词：JAK2基因 急性淋巴细胞白血病(ALL) 儿童 易感性 单核苷酸多态性位点(SNP) 

分 类 号：R725.5[医药卫生—儿科]