[PRKCZ基因单核苷酸多态性的功能分析]
[Functional analysis of the single nucleotide polymorphisms in the PRKCZ gene].
作者信息
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
机构信息
National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS, PUMC, Beijing 100005, China.
出版信息
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2002 Oct;24(5):471-3.
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.
目的
研究蛋白激酶Cζ型（PRKCZ）基因的5个单核苷酸多态性（SNP）在华北地区汉族人群2型糖尿病易感基因中的作用及其在疾病发病机制中的作用。
方法
采用生物信息学方法和报告基因活性测定法分析5个SNP的功能。
结果
rs427811和rs809912这2个SNP的不同等位基因的报告基因活性存在明显差异，提示这2个SNP可能是该疾病的易感位点。
结论
进一步证实PRKCZ基因是华北地区汉族人群2型糖尿病的易感基因。该基因中的2个SNP通过影响PRKCZ基因的表达水平在疾病发病机制中发挥作用。
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