| 先天性心脏病发病机制中的遗传因素 |
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| 引用本文： | 具钊汝.先天性心脏病发病机制中的遗传因素[J].国际儿科学杂志,2012,39(1). |
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| 作者姓名： | 具钊汝 |
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| 作者单位： | 复旦大学附属儿科医院心内科, 上海,201102 |
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| 基金项目： | 国家自然科学基金资助项目 |
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| 摘 要： | 先天性心脏病是人类最常见的出生缺陷,其发病机制相当复杂,与遗传因素有密切关系.染色体畸变、单基因突变和多基因突变都有可能导致先天性心脏畸形.近年来,随着分子遗传学技术在先天性心脏病领域的应用及发展,人类对于心脏畸形病因的认识有了显著的提高.
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| 关 键 词： | 先天性心脏病 转录因子 单基因 染色体畸变 |
Genetic factors of congenital heart diseases |
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| JU Zhao-ru.Genetic factors of congenital heart diseases[J].International Journal of Pediatrics,2012,39(1). |
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| Authors: | JU Zhao-ru |
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| Abstract: | Congenital heart disease (CHD) is the most common defect in human.The genetic basis of CHD is rather complicated.Chromosome aberrations,single gene disorders and polygenic disorders are three known genetic mechanisms that are responsible for cardiac malformations.Recently,with the application and development of molecular genetic approaches in CHD,significant advances in the understanding of the pathogenesis of cardiac malformations are being made. |
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