北京和东京人群MYO9B单核苷酸多态性差异比较分析  

Comparative Analysis on Single Nucleotide Polymorphism of MYO9B in Beijing and Tokyo Populations

作　　者：孔红祥 钟敏华[1] 何芳[1] 覃素梅 徐钰钧 梁启 Kong Hongxiang;Zhong Minhua;He Fang;Qin Sumei;Xu Yujun;Liang Qi(The People＇s Hospital ofLiuzhou, Liuzhou, 54500)

机构地区：[1]柳州市人民医院

出　　处：《基因组学与应用生物学》2018年第6期2621-2626,共6页Genomics and Applied Biology

基　　金：广西壮族自治区卫生厅基金项目(z2016112);柳州市人民医院“硕士博士医学研究启动基金”项目(lryjj201-603)共同资助

摘　　要：为探讨中国北京汉族人群（CHB）和日本东京人群（JPT）肌球蛋9B（MYO9B）单核苷酸基因多态性（SNP）、单体域和单体型的差异,我们利用人类基因组单体型图（Hap Map）公布的Ⅲ期MYO9B SNP数据,通过Haploview4.2软件选择合格SNP、标签SNP（tagSNP）、估计最小等位基因频率（minimum allele frequency,MAF）及构建单体域,并比较其差异。然后通过Phase2.1软件构建特殊tagSNP位点单体型并行置换检验以比较两个人群所构建单体型的差异。研究结果表明,从CHB及JPT MYO9B中分别筛选出52个及50个合格SNP,其中49个是一致的。两人群合格SNP MAF频数最高组段及最低组段相同,且整体比较无差别（p=0.07）。于两人群MYO9B各构建7个和5个单体域,其中两个基本相同,一个单体域为CHB独有,其余在两人群分布不同但互有重叠。从两人群MYO9B分别筛选出23个及17个tagSNP,其中17个tagSNP相同,另6个SNP在CHB单独成为tagSNP而不与其他SNP相关联。利用两人群MYO9B特殊tagSNP位点共构建10个频率〉2%的相同的单体型,累计频率分别为51.37%和51.99%,且两者均以TCTCG和TTTCG单体型为主。两人群MYO9B特殊位点单体型构成基本相同（p=0.765）。综上所述,CHB和JPT的MYO9B SNP及单体域特征以共性为主,与人群的地域和种族属性一致;北京汉族与东京人群特殊SNP位点构建的MYO9B单体型构成及频率无差别。To explore the differences of single nucleotide polymorphisms（SNP）, haplotype block and haplotype of myosin IXB（MYO9B） between Han Chinese in Beijing（CHB） and Japanese in Tokyo（JPT） populations, we used the phase Ⅲ data of MYO9 B SNP released by Hap Map to select the eligible SNP, tagSNP, estimate minimum allele frequency（MAF） and construct haplotype block with Haploview4.2 software and compared their differences; then we constructed special tagging-SNP haplotypes with PHASE 2.1 program and analyzed the differences of haplotypes between two groups with permutation test. The results showed that 52 and 50 MYO9B eligible SNPs were selected from CHB and JPT respectively, in which 49 SNPs were identical. The highest and the lowest section of the MYO9B eligible SNP MAF frequency of two populations were the same and there was no difference between the whole MAF（p=0.07）. Seven and five haplotype blocks of MYO9B in the two populations were constructed respectively, two of which were basically the same, a single haplotype block was unique to CHB,and other haplotype blocks were different but overlapping with each other. Two populations were screened 23 and 17 tagSNPs of MYO9B respectively, of which 17 tagSNP were identical, 6 SNPs were unique to CHB and they were not associated with other SNPs. Ten same haplotypes were constructed with the special MYO9B tagSNP sites of two people, which frequency were all over 2% and the cumulative frequency in CHB and JPT were 51.37% and51.99% respectively; TCTCG and TTTCG were the primary haplotypes of both. The haplotypes constructed by special MYO9B tagSNP sites of two populations were basically the same（p =0.765）. In conclusion, SNPs and haplotype blocks in MYO9B had common features between CHB and JPT populations, which were consistent with the geographic and ethnic origins of the two populations. There were no difference of composition and frequency of MYO9B haplotypes constructed by special tagSNP sites of CHB and JPT.

关 键 词：肌球蛋9B 单核苷酸基因多态性 单体域 单体型 

分 类 号：R440[医药卫生—诊断学]