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Haploview与PHASE在单体型研究中的应用 被引量：4

Using Haploview and PHASE in Haplotype Research
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摘要 目的探索Haploview与PHASE软件在单核苷酸多态性单体型分析中的应用。方法利用Hap-Map 2009年Ⅲ期发布的XRCC2基因单个单核苷酸多态性(SNP)数据,通过Haploview4.2选择标签SNP,PHASE2.1构建单体型,并比较北京汉族人(CHB)与东京日本人(JPT)中相应单体型的差异。结果在CHB和JPT数据对应人群中,以XRCC2 rs3218552、rs3218534r、s3218458r、s3094406和rs3218408五个标签SNP构建的单体型分布差别有统计学意义。结论利用Haploview选择标签SNP,PHASE构建单体型在单体型研究中可行,但仍须谨慎选择标签SNP,更可靠的结果也需要其他软件的协作。 Objective To explore the application of Haploview and PHASE softwares for haplotyping analysis. Methods Using the XRCC2 SNP genotype data from HapMap phase 3,tagSNPs were selected by Haploview4.2,and haplotypes were reconstructed by PHASE2.1.The differences of haplotype frequency between CHB and JPT data were compared. Results The haplotype for XRCC2 gene was reconstructed by 5 tagSNPs including rs3218552,rs3218534,rs3218458,rs3094406 and rs3218408.Significances of difference of XRCC2 gene haplotype were observed. Conclusion Applying Haploview to select tagSNPs and reconstructing haplotypes by PHASE are available for haplotype research. The choices should be careful, and getting the more reliable results should be collaborated with other soft- wares.
作者 黄萌 蔡琳
机构地区 福建医科大学公共卫生学院流行病与卫生统计学系
出处 《福建医科大学学报》 2009年第4期310-313,共4页 Journal of Fujian Medical University
基金 国家自然科学基金(30771845) 福建省科技开发计划资助项目(2005D075) 福建省教育厅科技项目(01601065)
关键词 等位基因 多态性 单核苷酸 基因型 alleles polymorphism single nucleotide cenotype
分类号 Q987 [生物学—遗传学]
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参考文献13

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二级参考文献72

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福建医科大学学报
2009年 第4期

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