[PRKCZ基因和UTS2基因的两个单核苷酸多态性分别与中国北方汉族2型糖尿病的关联]
[The association of two single nucleotide polymorphisms in PRKCZ and UTS2 respectively with type 2 diabetes in Han people of northern China].
作者信息
Sun Hong-xia, Du Wei-nan, Zuo Jin, Wu Guo-dong, Shi Gui-bin, Shen Yan, Qiang Bo-qin, Yao Zhi-jian, Hang Jian-mei, 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 and PUMC, Beijing 100005, China.
出版信息
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2002 Jun;24(3):223-7.
OBJECTIVE
To probe the candidate susceptibility gene (s) of type 2 diabetes in the formal mapping region, 1p36.33-p36.23, in Han people of Northern China using single nucleotide polymorphisms (SNPs).
METHODS
23 SNPs located in 10 candidate genes in the mapping region were chosen from public SNP domain by bioinformatic methods and single base extension (SBE) method were used to genotype the loci in 192 sporadic type 2 diabetes patients and 172 normal individuals to perform case-control study.
RESULTS
Among the 23 SNPs, 8 were found to be common in Chinese population. There were statistically different in the allele frequency of 2 SNP, rs436045 in the protein kinase C/xi gene and rs228648 in Urotensin II gene between case and control groups.
CONCLUSIONS
The two SNP may be associated with type 2 diabetes in Han people of China, which makes base for further study of the relation between the genes they located with type 2 diabetes.
目的
利用单核苷酸多态性（SNP）探究中国北方汉族人2型糖尿病在正式定位区域1p36.33 - p36.23中的候选易感基因。
方法
通过生物信息学方法从公共SNP数据库中选取定位区域内10个候选基因中的23个SNP，采用单碱基延伸（SBE）法对192例散发2型糖尿病患者和172例正常个体进行基因分型，进行病例对照研究。
结果
23个SNP中，8个在中国人群中常见。病例组和对照组之间，蛋白激酶C/ξ基因中的rs436045和尾加压素II基因中的rs228648这2个SNP的等位基因频率存在统计学差异。
结论
这两个SNP可能与中国汉族人的2型糖尿病相关，为进一步研究它们所在基因与2型糖尿病的关系奠定了基础。
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