激光杂志
激光雜誌
격광잡지
LASER JOURNAL
2011年
6期
77-79
,共3页
MCPH1基因%原发性小头畸形(MCPH)%标签SNP%单倍型%单倍域
MCPH1基因%原髮性小頭畸形(MCPH)%標籤SNP%單倍型%單倍域
MCPH1기인%원발성소두기형(MCPH)%표첨SNP%단배형%단배역
MCPH1 gene%primary microcephaly（MCPH）：tag-SNP%haplotype block：haplotype
目的：为考察汉族人群MCPH1基因与原发性小头畸形病的关系,利用生物信息学方法挑选汉族人群中的MCPH1基因标签单核苷酸多态性（tag-SNPs）位点。方法：利用NCBI数据库,确定MCPHl基因研究范围：利用Hapmap数据库获取汉族人群的MCPHl基因SNPs数据;应用Haploview4.2对MCPH1基因进行连锁不平衡分析;在D′值95%可信区间内构建单倍域（haplotype block）：根据单倍域内SNPs之间的r2值和LOD值,挑选标签SNP。结果：在汉族人群中,MCPH1全基因范围内共构建35个单倍域,挑选出122个标签SNPs,确定了各个单倍域内的代表单倍型。结论：汉族人群MCPH1基因的122个SNPs位点是较具代表性的标志性位点,可被选为标签SNPs,并作为汉族人群MCPHl基因与原发性小头畸形病的关联研究。
目的：為攷察漢族人群MCPH1基因與原髮性小頭畸形病的關繫,利用生物信息學方法挑選漢族人群中的MCPH1基因標籤單覈苷痠多態性（tag-SNPs）位點。方法：利用NCBI數據庫,確定MCPHl基因研究範圍：利用Hapmap數據庫穫取漢族人群的MCPHl基因SNPs數據;應用Haploview4.2對MCPH1基因進行連鎖不平衡分析;在D′值95%可信區間內構建單倍域（haplotype block）：根據單倍域內SNPs之間的r2值和LOD值,挑選標籤SNP。結果：在漢族人群中,MCPH1全基因範圍內共構建35箇單倍域,挑選齣122箇標籤SNPs,確定瞭各箇單倍域內的代錶單倍型。結論：漢族人群MCPH1基因的122箇SNPs位點是較具代錶性的標誌性位點,可被選為標籤SNPs,併作為漢族人群MCPHl基因與原髮性小頭畸形病的關聯研究。
목적：위고찰한족인군MCPH1기인여원발성소두기형병적관계,이용생물신식학방법도선한족인군중적MCPH1기인표첨단핵감산다태성（tag-SNPs）위점。방법：이용NCBI수거고,학정MCPHl기인연구범위：이용Hapmap수거고획취한족인군적MCPHl기인SNPs수거;응용Haploview4.2대MCPH1기인진행련쇄불평형분석;재D′치95%가신구간내구건단배역（haplotype block）：근거단배역내SNPs지간적r2치화LOD치,도선표첨SNP。결과：재한족인군중,MCPH1전기인범위내공구건35개단배역,도선출122개표첨SNPs,학정료각개단배역내적대표단배형。결론：한족인군MCPH1기인적122개SNPs위점시교구대표성적표지성위점,가피선위표첨SNPs,병작위한족인군MCPHl기인여원발성소두기형병적관련연구。
Objective：Han population for the study MCPH1 primary microcephaly genes and the relationship between disease,the use of bioinformatics methods for selecting the Han population MCPH1 gene tag single nucleotide polymorphisms（tag-SNPs） sites.Methods：Using NCBI databases,to determine the scope of genetic research MCPH1;use Hapmap database for the Han population MCPH1 gene SNPs data;application Haploview4.2 MCPH1 gene on linkage disequilibrium analysis;in the D＇value of the 95% confidence interval constructed single-fold domain（haplotype block）;based on the single-fold within the r2 values between SNPs and the LOD value,tag SNP selection.Results：In the Han population,MCPH 1 genome were constructed within the domain of 35 haplotypes,selected 122 tag SNPs,identified representatives of the various haplotypes within haplotype.Conclusion：MCPH1 gene in Han population of 122 SNPs loci are more representative of the landmark site,can be selected as tag SNPs,Han population MCPH1 favor of primary microcephaly genes and disease association studies.
