| ABCA1基因突变筛查及其与冠心病的相关性分析 |
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| 引用本文： | 李亚,贺勇,王玉明,王丹.ABCA1基因突变筛查及其与冠心病的相关性分析[J].四川医学,2007,28(7):703-704. |
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| 作者姓名： | 李亚 贺勇 王玉明 王丹 |
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| 作者单位： | 成都医学院,四川,成都,610083;四川大学华西医院,四川,成都,610041 |
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| 摘 要： | 目的探讨ABCA1基因变异与冠心病的关系。方法采用变性高效液相色谱技术对21例低HDL-C水平的冠心病患者ABCA1基因部分外显子及其相邻内含子区域进行筛查,并在182名正常人和174例冠心病患者间进行病例对照研究。结果在ABCA1基因第49内含子中发现G142785C多态;患者组G142785C多态C等位基因及GC基因型频率均较对照组显著升高(P<0.05);患者组中,GC基因型者血浆HDL-C水平较GC基因型明显降低(P<0.05)。结论ABCA1基因G142785C多态可能通过改变HDL-C水平影响个体冠心病易感性。
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| 关 键 词： | 冠心病 ABCA1基因 高密度脂蛋白胆固醇 |
| 文章编号： | 1004-0501（2007）07-0703-02 |
| 修稿时间： | 2007-01-18 |
Screening for ABCA1 gene mutation and analysis of its association with coronary heart disease |
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| Li Ya, He Yong, Wang Yuming , a al ..Screening for ABCA1 gene mutation and analysis of its association with coronary heart disease[J].Sichuan Medical Journal,2007,28(7):703-704. |
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| Authors: | Li Ya He Yong Wang Yuming a al |
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| Institution: | 1. Chengdu Medical College, Chengdu , Sichuan 610083;2. West China Hospital, Sichuan University, Chengdu , Sichuan 610041, China |
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| Abstract: | Objective To investigate the possible association between the variation of the ABCA1 gene and coronary heart disease(CHD).Methods Screening for mutation in the ABCA1 gene was performed by denaturing high performance liquid chromatography in 21 CHD patients with low HDL-C levels and case-control study was carried out between 174 CHD patients and 182 healthy controls.Results The G142785C polymorphism in intron 49 was identified.Frequencies of both C allele and GC genotype in patients were significant higher than those in controls(P<0.05).In patients,GC genotype was associated with lower HDL-C level compared with GG genotype(P<0.05).Conclusion The G142785C polymorphism in the ABCA1 gene may be involved in the susceptibility to CHD and the variability of plasma HDL-C level. |
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| Keywords: | coronary heart disease ATP-binding cassette cassette transporter 1 gene high-density lipoprotein cholesterol |
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