中国免疫学杂志
中國免疫學雜誌
중국면역학잡지
CHINESE JOURNAL OF IMMUNOLOGY
2015年
9期
1156-1162
,共7页
杨春晓%刘亚妮%沈如飞%周嘉黎%罗小梅%张玉%师少军
楊春曉%劉亞妮%瀋如飛%週嘉黎%囉小梅%張玉%師少軍
양춘효%류아니%침여비%주가려%라소매%장옥%사소군
Nm23%基因多态性%湖北汉族健康人群
Nm23%基因多態性%湖北漢族健康人群
Nm23%기인다태성%호북한족건강인군
Nm23/NDPK%Single nucleotide polymorphism%Healthy Chinese Hans population
目的：建立Nm23基因上10个单核苷酸多态性位点基因型的检测方法，并探讨这些位点在湖北武汉地区健康汉族人群中基因型分布特点，为研究Nm23基因多态性与相关疾病或药物不良反应关联性提供依据。方法：随机选取武汉地区健康体检人群200例，其中男性115例，女性85例。采用实时荧光TaqMan-MGB探针等位基因分型技术进行Nm23基因启动子及内含子区域共10个单核苷酸位点多态性检测。并采用分片段扩增直接测序方法对上述位点进行抽样验证。结果：建立的方法能够准确、快速地对Nm23基因单核苷酸多态性位点进行分型检测。所选Nm23基因上10个位点在湖北汉族人群中分布同国内其他地区研究及HapMap数据库中北京地区汉族人群相近。且均符合Hardy-weinberg平衡，其中rs16949649与rs7207370、rs34214448，rs2159359与rs2302254、rs8075231、rs2041296、rs8071647位点间高度连锁不平衡，并运用Heploview软件筛选出4个Tag SNPs：rs34214448、rs2302254、rs11868380、rs2318785。结论：试验中建立的基因型测定方法可满足Nm23基因遗传多态性研究的需要，在Nm23基因多态性与相关疾病及药物不良反应关联性研究中可能具有重要应用价值。
目的：建立Nm23基因上10箇單覈苷痠多態性位點基因型的檢測方法，併探討這些位點在湖北武漢地區健康漢族人群中基因型分佈特點，為研究Nm23基因多態性與相關疾病或藥物不良反應關聯性提供依據。方法：隨機選取武漢地區健康體檢人群200例，其中男性115例，女性85例。採用實時熒光TaqMan-MGB探針等位基因分型技術進行Nm23基因啟動子及內含子區域共10箇單覈苷痠位點多態性檢測。併採用分片段擴增直接測序方法對上述位點進行抽樣驗證。結果：建立的方法能夠準確、快速地對Nm23基因單覈苷痠多態性位點進行分型檢測。所選Nm23基因上10箇位點在湖北漢族人群中分佈同國內其他地區研究及HapMap數據庫中北京地區漢族人群相近。且均符閤Hardy-weinberg平衡，其中rs16949649與rs7207370、rs34214448，rs2159359與rs2302254、rs8075231、rs2041296、rs8071647位點間高度連鎖不平衡，併運用Heploview軟件篩選齣4箇Tag SNPs：rs34214448、rs2302254、rs11868380、rs2318785。結論：試驗中建立的基因型測定方法可滿足Nm23基因遺傳多態性研究的需要，在Nm23基因多態性與相關疾病及藥物不良反應關聯性研究中可能具有重要應用價值。
목적：건립Nm23기인상10개단핵감산다태성위점기인형적검측방법，병탐토저사위점재호북무한지구건강한족인군중기인형분포특점，위연구Nm23기인다태성여상관질병혹약물불량반응관련성제공의거。방법：수궤선취무한지구건강체검인군200례，기중남성115례，녀성85례。채용실시형광TaqMan-MGB탐침등위기인분형기술진행Nm23기인계동자급내함자구역공10개단핵감산위점다태성검측。병채용분편단확증직접측서방법대상술위점진행추양험증。결과：건립적방법능구준학、쾌속지대Nm23기인단핵감산다태성위점진행분형검측。소선Nm23기인상10개위점재호북한족인군중분포동국내기타지구연구급HapMap수거고중북경지구한족인군상근。차균부합Hardy-weinberg평형，기중rs16949649여rs7207370、rs34214448，rs2159359여rs2302254、rs8075231、rs2041296、rs8071647위점간고도련쇄불평형，병운용Heploview연건사선출4개Tag SNPs：rs34214448、rs2302254、rs11868380、rs2318785。결론：시험중건립적기인형측정방법가만족Nm23기인유전다태성연구적수요，재Nm23기인다태성여상관질병급약물불량반응관련성연구중가능구유중요응용개치。
Objective:To develop a method for the detection of 10 single nucleotide polymorphisms(SNPs) of Nm23 gene,and to explore the genotypic and allelic distributions of the 10 SNPs in Chinese Hans population in Wuhan.Methods: Two hundreds healthy subjects ,115 men and 85 women included ,were enrolled as DNA sample donors.The real time TaqMan-MGB genotyping assay was used for the determination of the 10 SNPs selected ,and the results were validated by direct gene sequencing.Results:The method established could accurately and quickly screen the genotypes of the 10 SNPs of Nm23/NDPK gene.Distribution frequencies of the 10 SNPs were similar to these in other researches as well as these of HCB.All the loci follow the Hardy-Weinberg equilibrium.Highly linkage disequilibriums were found between rs 16949649 and rs7207370 , rs16949649 and rs34214448 , rs2159359 and rs2302254 , rs2159359 and rs8075231 ,rs2159359 and rs2041296 ,as well as rs2159359 and rs8071647 ,respectively.Four Tag SNPs:rs34214448 , rs2302254 ,rs11868380 and rs2318785 were initially selected by Heploview software.Conclusion:The method established for SNP gen-otyping can meet the needs for rapid analysis of Nm 23 gene polymorphisms ,and may have great values in investigating the association between gene polymorphisms and diseases as well as adverse drug reactions.
