[PRKCZ基因单核苷酸多态性的连锁不平衡分析]
[Linkage disequilibrium 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):474-80.
OBJECTIVE
To search for the disease-associated haplotype in the PRKCZ gene, a susceptibility gene for type 2 diabetes in Han population of North China, by case-control study and linkage disequilibrium (LD) analysis using single nucleotide polymorphisms (SNPs).
METHODS
SNPs located in the PRKCZ gene were chosen from public SNP domain by bioinformatic methods and single base extension (SBE) method was used to genotype the loci in 173 sporadic type 2 diabetes patients and 152 normal individuals to perform case-control study and LD analysis. Haplotype block were constructed in these populations.
RESULTS
Several SNPs in the PRKCZ gene were found to be associated with the disease. The SNPs formed different haplotype block pattern in case and control groups. The frequencies of the haplotypes formed by 5 SNPs were statistically different between the two groups.
CONCLUSION
The haplotype formed by 5 SNPs in the PRKCZ gene may be associated with type 2 diabetes in Han population of China, which is confirmed from statistics to be a susceptibility gene for the disease.
目的
通过病例对照研究以及利用单核苷酸多态性（SNP）进行连锁不平衡（LD）分析，在中国北方汉族人群中寻找2型糖尿病易感基因PRKCZ基因中与疾病相关的单倍型。
方法
通过生物信息学方法从公共SNP数据库中选取位于PRKCZ基因上的SNP，采用单碱基延伸（SBE）法对173例散发2型糖尿病患者和152例正常个体的这些位点进行基因分型，以进行病例对照研究和LD分析。在这些人群中构建单倍型块。
结果
发现PRKCZ基因中的几个SNP与疾病相关。这些SNP在病例组和对照组中形成了不同的单倍型块模式。由5个SNP形成的单倍型频率在两组之间存在统计学差异。
结论
PRKCZ基因中由5个SNP形成的单倍型可能与中国汉族人群的2型糖尿病相关，经统计学证实该基因是该疾病的一个易感基因。
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