OCTN1、OCTN2基因多态性与广西壮族炎症性肠病患者的相关性研究

摘要

Objective To study the correlation between single nucleotide polymorphism( SNP )sites C1672T,G-207C of OCTN1 and OCTN2 gene, and the susceptibility inflammatory bowel disease in Chinese Zhuang population in Guangxi. Methods One hundred and forty-six unrelated IBD patients( Zhuangs 70 cases, Hans 76 cases )and one hundred sixty-four healthy controls( Zhuangs 80 cases, Hans 87 cases )were recruited. Genomic DNA samples were obtained from intestinal tissues by phenol chloroform extraction method. Polymorphisms of OCTN1 gene C1672T and OCTN2 gene G-207C were detected by polymerase chain reaction-restriction fragment length polymorphism( PCR-RFLP ).Results The mutant genotypes of OCTN1 gene C1672T and OCTN2 gene G-207C were not found in both IBD patients and healthy controls. Conclusion The gene polymorphisms of OCTN1 gene C1672T and OCTN2 gene G-207C are not associated with IBD in the Chinese Zhuang population in Guangxi.%目的 研究OCTN1、OCTN2基因单核苷酸多态性(SNP)位点C1672T、G-207C与中国广西壮族炎症性肠病(IBD)易感性的关系.方法 分别收集广西无亲缘关系的壮族70例和汉族76例IBD患者及壮族80例和汉族87例健康对照者的肠黏膜组织,苯酚/氯仿法提取各组肠黏膜组织的DNA,采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)方法检测OCTN1基因C1672T和OCTN2基因G-207C的基因型,计算基因频率,根据结果分析该突变与IBD的关系.结果 本组IBD患者和健康对照者中均未检测出OCTN1基因C1672T和OCTN2基因G-207C突变型.结论 OCTN1基因C1672T和OCTN2基因G-207C与中国广西壮族人炎症性肠病的发病可能无相关性.