文章摘要
徐朴,李艳,张平安,李晓艳,李庚山.IL-1RN内含子2和外显子2基因多态性的分布特点及其与血脂的相关关系[J].中华流行病学杂志,2004,25(6):522-525,526
IL-1RN内含子2和外显子2基因多态性的分布特点及其与血脂的相关关系
The distribution of gene polymorphisms in the intron 2 and exon 2 of interleukin-1 receptor antagonist and their correlation with the serum lipoprotein level
收稿日期:2003-04-28  出版日期:2014-09-17
DOI:
中文关键词: 白细胞介素-1受体拮抗剂  基因多态性  连锁不平衡  血脂水平
英文关键词: IL-1 receptor antagonist Gene  polymorphism  Linkage disequilibrium  Serum lipoprotein level
基金项目:
作者单位
徐朴 武汉大学人民医院检验科 430060 
李艳 武汉大学人民医院检验科 430060 
张平安 武汉大学人民医院检验科 430060 
李晓艳 武汉大学人民医院心内科 
李庚山 武汉大学人民医院心内科 
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中文摘要:
      目的 探讨武汉地区汉族健康人群白细胞介素-1受体拮抗剂基因(IL-1RN)第2号内含子中可变数串联重复序列(VNTR)多态性和第2号外显子+8006位点单核苷酸多态性(SNP)的分布特点及其与血脂的相关关系。方法 采用聚合酶链反应(PCR)和PCR-限制性片段长度多态性(RFLP)的分析方法<,检测了251名武汉地区汉族健康者IL-1RN(VNTR)和IL-1RN(+8006)多态性,同时检测其血脂、IL-1和IL-1Ra水平。结果 IL-1RN(VNTR)的等位基因以Ⅰ型最为常见,其次为Ⅱ型,Ⅳ型较为罕见;IL-1RN(+8006)的等位基因以T型最为常见,其次为C型;IL-1RN(VNTR)的等位基因Ⅱ总是伴随着IL-1RN(+8006)的等位基因C而出现;这两种多态性的分布在男女间差异不显著,且与血脂、IL-1和IL-1Ra水平间不存在相关关系(P>0.05)。结论 武汉地区汉族健康人群IL-1RN内含子2和外显子2中均存在基因多态性,其等位基因间存在连锁不平衡;这两种多态性与血脂、IL-1和IL-1Ra水平间不存在相关关系。
英文摘要:
      Objective To study the distribution of variable numbers of tandem repeat (VNTR) polymorphism in the intron 2 and the single nucleoide polymorphism(SNP) at position +8006 in the exon 2 of IL-IRN in healthy Chinese Han Population of Wuhan province and to analyze their correlation with the serum lipoprotein level.Methods IL-1RN(VNTR) and IL-1RN(+8006) polymorphisms were detected by PCR and PCR-RFLP metheods in 251 healthy Chinese Han Population of Wuhan,and the levels of serum lipoprotein,IL-1 and IL-1Ra wer inspected simultaneousy.Results In IL-1RN(VNTR),allele Ⅰappeared most common,then allele Ⅱ,and allele Ⅳ was rare.At the position of IL-1RN(+8006),allele T was most commonly seen followed by allele C.Allele Ⅱ of IL-1RN(VNTR) always existed with allele C of IL-1RN(+8006).The levels of serum lipoprotein,IL-1 and IL-1Ra were not different arnong the different genotypes of the two polymorphisms.Conclusion There were two gene polymorphisms in the intron 2 and exon 2 of IL-1RN,which were no correlated with the levels of serum lipoprotein,IL-1 and IL-1Ra. However,there seemed to be a linkage disequilibrium between IL-1RN (VNTR) and IL-1RN (+8006).
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