75例广东籍汉族人蛋白磷酸酶2A-B56γ亚基基因5’-侧翼区多态性分析  

Genetic polymorphism analysis on the 5'-flanking region of the PPP2R5C gene in 75 cases of Guangdong Han nationality

作　　者：林育纯[1] 陈慧峰[1] 陈宇曦[1] 林丽娜[1] 罗洁[1] 李文[1] 张树江[1] 赖关朝[2] 吴邦华[2] 唐小江[2] 陈雯[1] 林忠宁[1] 

机构地区：[1]中山大学公共卫生学院,广东广州510080 [2]广东省职业病防治院,510300

出　　处：《中国职业医学》2011年第1期8-12,共5页China Occupational Medicine

基　　金：国家自然科学基金项目(30771832;81072334);教育部科学技术研究重点项目(109126);教育部博士点基金项目(20090171110052);中山大学211三期项目资助课题

摘　　要：目的探讨蛋白磷酸酶2A(PP2A)-B56γ亚基基因(PPP2R5C)启动子区的多态性和人群分布。方法随机选取广东汉族健康人群的全基因组DNA,聚合酶链反应(PCR)获得PPP2R5C基因5’-侧翼区的目的片段产物直接再测序,序列比对并确证遗传变异位点,采用HaploV iew软件进行等位基因型人群分布的分析、并与国际单体型图谱计划(Hap-Map)数据进行比较。结果成功测序75例健康人(150条染色体)PPP2R5C基因-1933nt^+241nt的目的片段,发现该人群中存在5个遗传变异位点且各等位基因型在年龄组和性别之间分布差异无统计学意义(P>0.05),最小等位基因频率(MAF)分别为-1447C>T(0.67%)、-1430G>A(19.33%)、-1274T>C(19.33%)、-563G>C(19.33%)和-526T>C(0.67%);与HapMap的中国北京人群和其他国外人群MAF和分布数据略为不同,但差异无统计学意义(P>0.05)。结论筛查出和首次报道PPP2R5C基因5’-侧翼区在中国南方广东汉族健康人群中的多态性位点及其等位基因型的分布。Objective To investigate the polymorphisms in the promoter region of the PPP2R5C gene encoding the B56γ subunit of protein phosphatase 2A（PP2A-B56γ） and their distributions in population.Methods The genomic DNA samples were randomly selected from healthy Han Cantonese in Guangdong.The genetic variants were identified by resequencing and blasting directly the PCR products targeted to the 5＇-flanking region of PPP2R5C.Allele distribution of the variants in the studied population were analyzed by HaploView software and compared with HapMap data.Results 75 healthy individuals（150 chromosomes） were completely resequenced with the targeted PCR amplicons at-1933nt~＋241nt locus of PPP2R5C.Five single nucleotide variants were identified,but no statistical significant differences were found between the distribution of their alleles in age groups or in gender groups（P0.05）.The minimum allele frequencies（MAF） of each variants was-1447CT（0.67%）,-1430GA（19.33%）,-1274TC（19.33%）,-563GC（19.33%） and-526TC（0.67%）,respectively.A slight difference without statistical significance was shown on the data of MAF and distribution between the population in this study and the populations in the HapMap-HCB or abroad（P0.05）.Conclusion The genetic polymorphisms in 5＇-flanking region of PPP2R5C gene and their allele distribution were firstly reported in the general Han Cantonese from Southern Chinese population.

关 键 词：蛋白磷酸酶2A(PP2A) 调节亚基B56γ 基因5’-侧翼区 多态性 

分 类 号：R135[医药卫生—劳动卫生]