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先天性巨结肠的SEMA3A基因单核苷酸多态性分析 被引量:1
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作者 王莉莉 范洋 +6 位作者 张一 周凤华 李慧 吴迪 苗佳宁 黄天楚 袁正伟 《中华胃肠外科杂志》 CAS 北大核心 2011年第6期469-470,共2页
目的探讨SEMA3A基因单核苷酸多态性(SNP)与先天性巨结肠发生的关系。方法应用PCR扩增后直接测序的方法.分析119例先天性巨结肠患者和93例正常人群中SEMA3Ars7804122、rs7978212个SNP位点基因型。结果SEMA3A基因rs797821位点的等位基... 目的探讨SEMA3A基因单核苷酸多态性(SNP)与先天性巨结肠发生的关系。方法应用PCR扩增后直接测序的方法.分析119例先天性巨结肠患者和93例正常人群中SEMA3Ars7804122、rs7978212个SNP位点基因型。结果SEMA3A基因rs797821位点的等位基因频率和基因型频率在先天性巨结肠组和正常对照组的分布差异无统计学意义(P〉0.05)。rs7804122位点的G等位基因(26.9%)和GG(5.0%),AG(43.7%)基因型在先天性巨结肠组中的频率明显高于正常对照组(12.9%、1.1%、23.7%,P〈0.05)。结论SEMA3A基因是先天性巨结肠重要的易感基因.其rs7804122位点G等位基因是先天性巨结肠发病的危险因素。 展开更多
关键词 先天性巨结肠 SEMA3A基因 单核苷 多态:基因
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A single nucleotide polymorphism in XRCC4 gene is associated with reduced colorectal cancer susceptibility in female 被引量:1
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作者 Zhang Zhongheng Hu Weiling 《Journal of Medical Colleges of PLA(China)》 CAS 2011年第2期85-93,共9页
Objective: To investigate the association of XRCC4 polymorphic variants at G-1394T (rs6869366) with colorectal cancer susceptibility. Methods: In this hospital-based case-control study, the association of XRCC4 po... Objective: To investigate the association of XRCC4 polymorphic variants at G-1394T (rs6869366) with colorectal cancer susceptibility. Methods: In this hospital-based case-control study, the association of XRCC4 polymorphism with colorectal cancer risk in Chinese population was investigated. In total, 171 patients with colorectal cancer and 171 healthy individuals matched for age and gender were selected. The genomic DNAs of the patients and controls were extracted from peripheral blood and the 300 bp target DNA was amplified with Polymerase Chain Reaction. The products were then digested with restriction endonuclease HinclI, followed by agarose electrophoresis to identify the genotype. Results: We found a significant difference in the frequency of the XRCC4 G-1394T genotype between the colorectal cancer and control groups in female (1/127 vs 8/122, P〈0.05). Those with G/T at XRCC4 G-1394T showed a decreased risk of colorectal cancer susceptibility compared with those with T/T (OR 0.113, 95%CI 0.014-0.932). However, in overall population or in male, there was no significant difference of the distribution between the colorectal cancer and control groups. Conclusion: Our findings with decreased risk of colorectal cancer susceptibility suggested that the G allele of XRCC4 G-1394T were associated in female. 展开更多
关键词 XRCC4 Colorectal cancer Single nucleotide nolvmomhism
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