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小扩增子基因分型方法在检测XRCC1 Arg194Trp多态性分析中的应用
引用本文:隋钰,卢永平,李学付,冯文华,赵宁,黄芳,胥威,赵淼,韩维田. 小扩增子基因分型方法在检测XRCC1 Arg194Trp多态性分析中的应用[J]. 国际遗传学杂志, 2010, 33(1): 142-146. DOI: 10.3760/cma.j.issn.1673-4386.2010.03.004
作者姓名:隋钰  卢永平  李学付  冯文华  赵宁  黄芳  胥威  赵淼  韩维田
作者单位:辽宁省计划生育科学研究院,沈阳,110031;
摘    要:目的 应用小扩增子基因分型方法检测正常人宫颈癌易感基因XRCC1 Arg194Trp位点多态性改变.方法 提取10例健康人外周血基因组DNA;PCR扩增XRCC1 基因 Arg194Trp位点,扩增产物进行小扩增子基因分型分析.并应用测序方法对分析结果进行验证.结果 HRM检测结果分别显示3种基因型:XRCC1 Arg194Arg(C/C)、XRCC1 Arg194Trp(C/T)和XRCC1 Trp194Trp(T/T).测序结果与小扩增子基因分型方法分析结果完全一致.结论 应用小扩增子基因分型方法可以对XRCC1 Arg194Trp进行准确分型.

关 键 词:小扩增子基因分型   高分辨率熔解曲线   

Application research of small amplicon genotyping method in detection of SNP polymorphisms of XRCC0 Arg194Trp
Abstract:Objective To detect the SNP polymorphisms of cervical cancer-associated-gene-XRCC1 Arg194Trp using small amplicon genotyping method. Method Genomic DNA was extracted from peripheral blood sample obtained from 10 healthy donors. DNA fragments encompassing XRCC1 Arg194Trp SNP polymorphisms were produced by PCR amplification and analyzed by small amplicon genotyping method. SNP polymorphisms were verified by DNA sequencing. Results showed that there are three genotypes: XRCC1 Arg194Arg (C/C) , XRCC1 Arg194Trp(C/T) , XRCC1 Trp194Trp(T/T). All of the polymorphic results are consistent with those obtained via DNA sequencing. Conclusion Small amplicon genotyping is an accurate and reliable method to detect the XRCC1 Arg194Trp polymorphisms.
Keywords:SNPsSmall amplicon genotypingHigh resolution meltingSNPs
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