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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 polymorphism and population distribution of the promoter region of protein phosphatase 2A (PP2A) -B56γ subunit gene (PPP2R5C). Methods Whole genome DNA of healthy population in Guangdong Han population were randomly selected. The PCR products were directly sequenced and sequenced, and the genetic variation sites were verified by HaploV iew software Allelic-type population distribution analysis, and with the International HapMap program (Hap-Map) data were compared. Results The sequence of -1933nt ~ + 241nt from -1933nt ~ + 241nt in 75 healthy volunteers (150 chromosomes) was successfully sequenced and found that there were 5 genetic variation loci in this population, and there was no significant difference in the distribution of alleles between age groups and sexes The minimum allele frequencies (MAF) were -1447C> T (0.67%), -1430G> A (19.33%), -1274T> C (-19.33%), -563G> C (19.33%) and -526T> C (0.67%). The MAF and distribution data were slightly different from those of HapMap in Beijing of China and other foreign countries, but the difference was not statistically significant (P> 0.05). Conclusion The distribution of polymorphic sites and alleles of the 5’-flanking region of PPP2R5C gene in healthy Han population of Guangdong Han population in southern China was screened and reported for the first time.