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基因拷贝数变异与先天性心脏病的研究进展 被引量：3

Copy number variations and congenital heart disease
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摘要 基因拷贝数变异是指与参考基因组相比,长度在1 kb以上的DNA片段缺失、插入、重复和复杂多位点的变异.基因拷贝数变异存在于人类和其他哺乳动物基因组中,与包括先天性心脏病在内的一系列复杂遗传性疾病相关.基因拷贝数变异是目前的研究热点之一.该文就基因拷贝数变异的概念、检测方法、在先天性心脏病领域进展作一综述. Deletions,insertions,duplications,and complex multi-site variants,now formally termed copy number variations（CNVs）,are regions larger than 1 kb that are present with variable copy numbers in comparison with the reference genome.CNVs in humans and other mammals are associated with a series of complex genetic diseases including congenital heart disease.The studies of CNVs have become hot topics.This review mainly discusses the principle of CNVs,the detection techniques and CNVs in the pathogenesis of congenital heart
作者 王佼(综述) 杨世伟 朱善良(审校)
机构地区 南京医科大学附属南京儿童医院心内科
出处 《国际儿科学杂志》 2014年第2期113-116,共4页 International Journal of Pediatrics
基金 国家自然科学资金资助项目（81000076）
关键词 先天性心脏病 拷贝数变异 微阵列比较基因组杂交 遗传 Congenital heart disease Copy number variations Microarray comparative genomic hybridization Genetics
分类号 R541.1 [医药卫生—心血管疾病]
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参考文献30

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同被引文献39

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  • 9Richards AA, Santos LJ, Nichols HA, et al. Crypticchromosomal abnormalities identified in children with congenital heart disease[J]. Pediatr Res, 2008,64 (4) : 358-363.
  • 10Yang TL, Chen XD, Guo Y, et al. Genome-wide copy- number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis[J]. Am J Human Genet, 2008,83 (6) :663-674.

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国际儿科学杂志
2014年 第2期

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