【摘 要】
：
目的 08年的一项全基因组扫描研究证实邻近tribbles同源物1(果蝇)(TRIB1)基因的一个SNP rs17321515与血浆中甘油三脂水平密切相关,故本研究选取TRIB1基因内含子区和3UTR区三个TagSNP(内含子区：rs235109,rs235110,3UTR区：rs235108),分析其在湖北省汉族人群中的分布特征检验基因型频率与Hardy-Weinberg平衡定律符合程度、组间基
【机 构】
：
430071,武汉东湖路169号,武汉大学中南医院基因诊断中心
【出 处】
：
第八次全国医学遗传学学术会议(中华医学会2009年医学遗传学年会)
论文部分内容阅读
目的 08年的一项全基因组扫描研究证实邻近tribbles同源物1(果蝇)(TRIB1)基因的一个SNP rs17321515与血浆中甘油三脂水平密切相关,故本研究选取TRIB1基因内含子区和3UTR区三个TagSNP(内含子区：rs235109,rs235110,3UTR区：rs235108),分析其在湖北省汉族人群中的分布特征检验基因型频率与Hardy-Weinberg平衡定律符合程度、组间基因型与等位基因频率比较,计算各个位点的多态信息量(polymorphic information content,PIC)及杂合度(heterozygosity,H).并比较其基因型和等位基因在正常人和冠心病人群中的分布情况方法 采用聚合酶链反应-限制性片段长度多态(PCR-RFLP)方法 对湖北地区236名健康汉族人和139名冠心病患者的TRIB1基因单核苷酸多态性(single nucleotide polymorphism,SNP)进行分析.并用PCR产物纯化后测序验证酶切结果 ,检验基因型频率与Hardy-Weinberg平衡定律符合程度、组间基因型与等位基因频率比较,均采用统计学软件spss14.0分析.结果 酶切后发现rs2235109和rs2235110呈完全连锁状态,所以选其中之一rs2235110进行研究.TRIB1基因TagSNP的分布特征符合Hardy-Weinberg平衡定律,(rs2235110：x2 =0.481,P=0.488；rs2235108：x2 =0.570,P=0.450),上述多态性位点的基因型频率和等位基因频率在冠心病和正常人群中的分布无统计学差异(rs2235110：x2=o.936,P=0.626；rs2235108：x2=0.329,P=0.566).但具有中等多态信息量(rs2235110位点PIC=0.3687,H=0.4875),几乎达到其PIC的理论最大值.结论 rs235108,rs235109,rs235110各位点的基因型和等位基因频率与冠心病人群无相关性；但几个SNP构成单倍型联用可作为一个理想的遗传标记.
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