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Study of the mutation of CARD15/NOD 2 gene in Crohn's disease
Author(s): ZHANG Yiyang, ZHI Fachao, ZHOU Dianyuan, JIANG Bo, LAI Zhuosheng, ZHANG Yingchun, ZHONG Changqing, LONG Jinghua, XU Dihui, ZHANG Zuo
Pages: 456-
459
Year: 2006
Issue:
7
Journal: CHINESE JOURNAL OF DIGESTION
Keyword: 多态性; 单核苷酸; 克罗恩病; 基因; CARD15/NOD2;
Abstract: 目的发现与中国人克罗恩病(CD)发病相关的单核苷酸多态性(SNP)及其与临床特点的关系.方法临床资料完整的CD、溃疡性结肠炎(UC)患者及健康体检者各30例.提取人血白细胞基因组DNA,PCR扩增NOD2基因第4、8、11外显子,纯化后直接测序.结果5例CD患者有SNP改变,其中2例为P268S,1例为R459R,2例为P268S和R459R,而在UC患者和健康人中各检测到1例R459R.所有研究对象未发现R702W、G908R及3020insC改变.CD有4例P268S,与UC和健康体检者比较差异有统计学意义(χ2=8.037,P<0.05).4例P268S CD患者病变均在回肠(χ2=9.231,P=0.01),发病年龄小于20岁(χ2=10.769,P<0.01),并发肠腔狭窄而需手术(χ2=7.972,P<0.01),2例有P268S和R459R的患者病情较重,多次复发.结论P268S可能是CARD15/NOD2基因中与中国人CD相关的SNP,与患者发病年龄、病变部位及肠腔狭窄明显相关,与患者性别及病变严重程度无关.
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