Liu Bin, Jiang Chao-Qiang, Thomas Graham Neil, Lao Xiang-Qian, Lin Jie-Ming, Yue Xiao-Jun, Zhang Wei-Sen, Zhu Tong, Lin Da-Qing
Molecular Epidemiological Research Center, Guangzhou No.12 Hospital, Guangzhou 510620, China.
Zhonghua Yu Fang Yi Xue Za Zhi. 2010 Jan;44(1):65-9.
To study the polymorphisms of cerebrovascular and cardiovascular disease genes using Taqman single nucleotide polymorphism (SNP) genotyping kits.
A total of 2000 subjects were recruited from the Guangzhou Biobank Cohort Study (GBCS), and 15 SNPs were detected using Taqman SNP genotyping kits and an ABI 7900HT real time PCR system. The data were tested for the Hardy-Weinberg equilibrium, and then compared with the data of the Chinese population from the International HapMap Project (HapMap_HCN).
(1) All genotype data of the 15 SNPs were consistent with the Hardy-Weinberg rules. (2) The significant differences were observed among two SNPs, rs4220 and rs5368 and the HapMap_HCN (rs4220 28.2% vs 17.8%; chi(2) = 4.891, P = 0.028; rs5368 22.1% vs 32.2%, chi(2) = 5.137, P = 0.024). Comparing other gene bank data, such as AFD-CHN-PANEL, the Allele Frequency Database (ALFRED) and JBIC-allele, it would be most likely that our observations represent differences between the Northern and Southern populations in China.
Such Biobank study provided a useful platform for the study of the role of genetic and environmental determinants on cerebrovascular and cardiovascular disease.
使用Taqman单核苷酸多态性（SNP）基因分型试剂盒研究脑血管和心血管疾病相关基因的多态性。
从广州生物样本库队列研究（GBCS）中招募了2000名受试者，使用Taqman SNP基因分型试剂盒和ABI 7900HT实时荧光定量PCR系统检测15个单核苷酸多态性。对数据进行哈迪-温伯格平衡检验，然后与国际人类基因组单体型图计划（HapMap_HCN）中中国人群的数据进行比较。
（1）15个单核苷酸多态性的所有基因型数据均符合哈迪-温伯格定律。（2）在两个单核苷酸多态性rs4220和rs5368与HapMap_HCN之间观察到显著差异（rs4220为28.2%对17.8%；卡方=4.891，P = 0.028；rs5368为22.1%对32.2%，卡方=5.137，P = 0.024）。与其他基因库数据如AFD-CHN-PANEL、等位基因频率数据库（ALFRED）和JBIC-等位基因相比较，很可能我们的观察结果代表了中国北方和南方人群之间的差异。
此类生物样本库研究为研究遗传和环境因素在脑血管和心血管疾病中的作用提供了一个有用的平台。
