| 蛋白激酶Cξ亚型基因为SNP功能分析 |
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| 作者姓名： | Sun HX Du WN Li YF Zuo J Wu GD Shen Y Qiang BQ Yao ZJ Hang JM Luo HY Wang H Huang W Chen Z Fang FD |
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| 作者单位： | [1]中国医学科学院中国协和医科大学基础医学研究所国家分子生物学重点实验室,北京100005 [2]ChineseNationalHumanGenomeCeteratBeijing |
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| 基金项目： | 教育部博士点基金(20010023024)、北京市自然科学基金(7002026)、国家自然科学基金(30170441、39896200)、国家高技术研究发展计划863重点项目基金(2001AA221161)、国家重点基础性研究973项目基金(G1998051016)资助Supported by the National Education Foundation of China (20010023024),the Natural Foundation of Beijing(7002026),the National Science Foundation of China (30170441,39896200)the National High Technology Research and Development Program (2001AA221161),the National Program for Key Basic Research Projects(G1998051016) |
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| 摘 要： | 目的：对中国北方汉族人群2型糖尿病易感基因蛋白激酶Cξ亚型（PRKCZ）基因的5个单核苷酸多态性（single nucletide polymorhism,SNP)标记在疾病发生中的作用进行分析。方法：通过生物信息化比对及报告基因活测定等方法分析PRKCZ基因内5个SNP位点对基因表达的影响。结果：PRKCZ基因中rs427811和rs809912位点两种等基因重组质粒报告基因活性存在明显差异,提示这两个位点可能影响PRKCZ基因表达,结论：PRKCZ基因中两个SNP位点可能通过影响基因的表达水平而在中国人2型糖尿病发生中发挥作用。
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| 关 键 词： | 蛋白激酶C 单核苷酸多态性标记 2型糖尿病 PRKCZ基因 |
| 修稿时间： | 2002年6月4日 |
Functional analysis of the single nucleotide polymorphisms in the PRKCZ gene |
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| Sun HX,Du WN,Li YF,Zuo J,Wu GD,Shen Y,Qiang BQ,Yao ZJ,Hang JM,Luo HY,Wang H,Huang W,Chen Z,Fang FD.Functional analysis of the single nucleotide polymorphisms in the PRKCZ gene[J].Acta Academiae Medicinae Sinicae,2002,24(5):471-473. |
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| Authors: | Sun Hong-xia Du Wei-nan Li Yun-feng Zuo Jin Wu Guo-dong Shen Yan Qiang Bo-qin Yao Zhi-jian Hang Jian-mei Luo Hui-yuan Wang Heng Huang Wei Chen Zhu Fang Fu-de |
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| Institution: | National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS, PUMC, Beijing 100005, China. |
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| Abstract: | OBJECTIVE: To study the function of 5 single nucleotide polymorphisms (SNPs) of the PRKCZ gene, a susceptibility gene for type 2 diabetes in Han population of North China, in the pathogenesis of the disease. METHODS: Bioinformatic methods and reporter gene activity determination were used to analyze the function of the 5 SNPs. RESULTS: The reporter gene activities of different alleles of 2 SNPs, rs427811 and rs809912, were obviously different, which implies that these 2 SNPs might be susceptibility loci of the disease. CONCLUSION: The PRKCZ gene is further confirmed to be a susceptibility gene for type 2 diabetes in Han population of North China. Two SNPs in the gene play a role in the pathogenesis of the disease by affecting the expression level of PRKCZ gene. |
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