冠状动脉粥样硬化性心脏病8号染色体基因扫描

doi:10.3724/SP.J.1005.2012.01043

遗传 ›› 2012, Vol. 34 ›› Issue (8): 1043-1049.doi: 10.3724/SP.J.1005.2012.01043

冠状动脉粥样硬化性心脏病8号染色体基因扫描

蒋婷婷¹, 陈星², 李婷婷¹, 张凤国², 谢毅³, 张建宁⁴, 彭洁¹, 刘天骄¹, 陈刚², 郭媛¹

1. 山东大学齐鲁医院心内科, 教育部和卫生部心血管重构与功能研究重点实验室, 济南250012 2. 山东省医学科学院基础医学研究所, 医学遗传学与基因工程重点实验室, 济南250062 3. 山东省胸科医院呼吸内科, 济南250013 4. 山东大学齐鲁医院ICU, 济南250012

收稿日期:2012-02-14 修回日期:2012-03-28 出版日期:2012-08-20 发布日期:2012-08-25
通讯作者: 郭媛 E-mail:guoyuan9092@163.com
基金资助:
山东省自然科学基金项目(编号：2009ZRA01110)资助

Genetic scanning on chromosome 8 loci for coronary heart disease

JIANG Ting-Ting¹, CHEN Xing², LI Ting-Ting¹, ZHANG Feng-Guo², XIE Yi³, ZHANG Jian-Ning⁴, PENG Jie¹, LIU Tian-Jiao¹, CHEN Gang², GUO Yuan¹

1. Department of Cardiology, Qilu Hospital of Shandong University, Jinan 250012, China 2. Laboratory of Medical Genetics, Institute of Basic Medicine, Shandong Academy of Medical Sciences, Jinan 250062, China 3. Department of Respiratory Medicine, Shandong Provincial Thoracic Hospital, Jinan 250013, China 4. Department of Intensive Care Unit, Qilu Hospital of Shandong University, Jinan 250012, China

Received:2012-02-14 Revised:2012-03-28 Online:2012-08-20 Published:2012-08-25

摘要/Abstract

摘要： 冠状动脉粥样硬化性心脏病(Coronary heart disease, CHD)的全基因组扫描研究在世界各大研究中心展开, 关于CHD易感基因位点的报道多集中于1号、3号、9号、11号、16号染色体, 对8号染色体的研究报道甚少。在汉族人群中未见关于CHD的8号染色体的基因扫描研究。文章旨在查找汉族人群中CHD易感基因位点, 选取8号染色体上间隔10 cM遗传距离的13个微卫星遗传位点, 采用DNA混合池的方法对CHD患者组156例和正常对照组1 000例DNA样本进行基因扫描, 经卡方检验分析患者组和对照组每个位点的等位基因频率差异。发现在患者组与对照组中D8S264位点(8p23.3-p23.2)及D8S285位点(8q12.1)的等位基因频率差异有统计学意义(P<0.05)。汉族人群中CHD患者8号染色体上8p23.3-p23.2、8q12.1区域可能存在CHD易感基因, 需要进行候选基因突变筛查。

关键词: 冠心病, 8号染色体, DNA混合池

Abstract: At present, genome-wide association study on coronary heart disease (CHD) has been carried out in several major medical research centers worldwide. Most studies of CHD susceptibility loci or regions focused on chromosome 1, 3, 9, 11 and 16, while studies on chromosome 8 are rare. To the best of our knowledge, the genome study on chromosome 8 about CHD in Chinese Han population has never been reported before. We aimed to identify CHD susceptibility loci or regions in the Chinese Han population. First, two separated DNA pooling samples were prepared from 156 CHD cases and 1000 normal controls. Then, a total of 13 microsatellite markers at an interval of 10 cM on chromosome 8 were selected for genetic scanning. Finally, the difference of allele frequency at each locus between two pooled samples was analyzed by Chi-square test. Significant differences were found between cases and controls at D8S264 (8p23.3-p23.2) and D8S285 (8q12.1) (both P<0.05). Therefore, 8p23.3-p23.2 and 8q12.1 are possible to be associated with CHD and further study is needed to screen susceptible genes around these regions.

Key words: coronary heart disease, chromosome 8, DNA pooling

蒋婷婷，陈星，李婷婷，张凤国，谢毅，张建宁，彭洁，刘天娇，陈刚，郭媛. 冠状动脉粥样硬化性心脏病8号染色体基因扫描[J]. 遗传, 2012, 34(8): 1043-1049.

JIANG Ting-Ting, CHEN Xing, LI Ting-Ting, ZHANG Feng-Guo, XIE Yi, ZHANG Jian-Ning, PENG Jie, LIU Tian-Jiao, CHEN Gang, GUO Yuan. Genetic scanning on chromosome 8 loci for coronary heart disease[J]. HEREDITAS, 2012, 34(8): 1043-1049.

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冠状动脉粥样硬化性心脏病8号染色体基因扫描

Genetic scanning on chromosome 8 loci for coronary heart disease

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