解放军医学杂志 , Medical Journal of Chinese People’s Liberation Army, 编辑部邮箱 , 2012年08期 [给本刊投稿] 【作者】 夏天保; 李杰; 娄晓同; 赵晶晶; 刘军连; 刘建军; 吕世超;
【Author】 XIA Tian-bao1,LI Jie3,LOU Xiao-tong2,ZHAO Jing-jing2,LIU Jun-lian1,LIU Jian-jun1,LV Shi-chao1 1Department of Dermatology,2Department of Professional Training,306 Hospital of PLA,Beijing 100101,China 3Health Office of the Headquarters of General Staff of PLA,Beijing 100034,China
【机构】 解放军306医院皮肤科; 解放军总参保健处; 解放军306医院科训科;
【摘要】 目的了解血小板活化因子乙酰水解酶(PAF-AH)基因7号外显子593位点T/C位点单核苷酸多态性(SNP)在中国上海地区汉族健康人群中的分布特征。方法采用聚合酶链反应(PCR)和测序法,对110名上海地区汉族健康者PAF-AH 7号外显子593位点T/C位点的SNP进行检测,计算其基因型和等位基因频率,并结合文献对不同种族该位点的突变情况进行比较。结果对110名上海地区汉族健康者PAF-AH Ile198-Thr(exon7;position 593;T-C)位点多态性进行检测,其PCR扩增产物为240bp。110人中,TT型97人(88.18%),TC型13人(11.82%),未发现CC型。该位点突变的等位基因频率分布也以T(94.09%)最为多见,其次为C(5.91%)。结合文献进行分析发现,上海地区汉族健康人群该位点突变基因型(TC)频率(11.82%)高于德国地区人群(0.95%,P<0.05),但与英国地区人群(7.67%)相比无统计学差异。结论上海地区汉族健康人群PAF-AH第7外显子593位点存在单核苷酸多态性,其T→C位点碱基突变比例较高,该位点突变基因型频率为1... 更多还原
【Abstract】 Objective To investigate the distribution of single nucleotide polymorphism(SNP) in platelet-activating factor acetylhydrolase(PAF-AH) gene exon 7 T/C(locus 593) in healthy Han population in Shanghai region and the features different from other races.Methods The SNP in PAF-AH gene exon 7 T/C(locus 593) was detected and analyzed by PCR and sequencing in 110 healthy Han people from Shanghai areas.The genotype and allele frequency were then calculated and compared with that in other races in combin... 更多还原 【关键词】 1-烷基-2-乙酰甘油磷酸胆碱酯酶; 多态性,单核苷酸; 聚合酶链反应; 【Key words】 1-alkyl-2-acetylglycerophosphocholine esterase; polymorphism,single nucleotide; polymerase chain reaction;
【分类号】R394
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