论文部分内容阅读
目的分析比较北京汉族(CHB)和西北欧洲后裔人群(CEU)ROR2基因单核苷酸多态性(SNPs)和单体域的特征,为两人群病因学研究SNPs的确定和分析提供依据。方法用Haplov-iew软件对HapMapCHB和CEU人群ROR2基因SNPs数据进行分析和比较。结果 HapMap计划在CHB和CEU均测定的ROR2基因SNPs为396个,其中纯合基因型SNPs数目相同,均为102个(25.8%)。两人群206个共同合格SNPs中,189个(91.7%)微效等位基因相同,MAF差值相对比<20%的占39.2%。206个共同合格SNPs在CHB和CEU分别构建了18和14个单体域,两人群各有一个独立单体域,三个单体域在两人群完全重叠,其余在两人群部分重叠。两人群各自合格SNPs中确定了31个共同标签SNPs。结论 CHB和CEU人群ROR2基因SNPs在等位基因组成、MAF和单体域构成等方面共性和独特性并存。本研究为ROR2基因共性位点及单体域在合并人群的分析,以及特异位点及单体域在各自人群的单独分析提供了基础。
Objective To analyze and compare the single nucleotide polymorphisms (SNPs) and haplotype characteristics of ROR2 gene in Beijing Han nationality (CHB) and Northwestern European descent population (CEU) so as to provide basis for the identification and analysis of SNPs in etiological study of two populations. Methods Haplov-iew software was used to analyze and compare the ROR2 SNPs in HapMapCHB and CEU populations. Results There were 396 ROR2 SNPs detected by HapMap in both CHB and CEU. The number of homozygous SNPs was 102 (25.8%). Among the 206 co-eligible SNPs in the two cohorts, 189 (91.7%) had the same minor alleles and 39.2% with <20% MAF differences. 206 common SNPs constructed 18 and 14 haplotypes respectively in CHB and CEU. Each of the two populations had an independent monomer domain. The three haplotypes completely overlapped in the two populations and the rest overlapped in the two populations. The two cohorts identified 31 common-tagged SNPs in their respective eligible SNPs. Conclusion The common and unique SNPs of ROR2 gene in CHB and CEU co-exist in allele, MAF and monomer domain composition. This study provides a basis for the analysis of common ROR2 gene loci and haplotypes in a cohort, as well as individual analyzes of specific loci and haplotypes in their respective populations.