| 遗传变异的又一来源：拷贝数变异 |
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| 引用本文： | 谭琪,曾凡一.遗传变异的又一来源：拷贝数变异[J].生物技术通讯,2009,20(3):396-398. |
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| 作者姓名： | 谭琪 曾凡一 |
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| 作者单位： | 上海交通大学医学院,上海医学遗传研究所,上海交通大学附属儿童医院,上海,200040 |
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| 基金项目： | 国家科技重大支撑计划，国家和上海市重点学科建设项目 |
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| 摘 要： | 人们很早就发现DNA拷贝数变异与特定染色体重组和基因组异常相关这一现象,但最近才知道它与疾病的相关联系。我们对拷贝数变异的原理、最新研究方法,及其与复杂疾病的相关性研究等进展进行了综述;总结了拷贝数变异研究所存在的问题;对拷贝数变异未来的研究重点和需要解决的问题进行了展望。
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| 关 键 词： | 拷贝数变异 微阵列比较基因组杂交 复杂疾病 |
Another Genetic Variation:Copy Number Variation |
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| TAN Qi,ZENG Fan-Yi.Another Genetic Variation:Copy Number Variation[J].Letters in Biotechnology,2009,20(3):396-398. |
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| Authors: | TAN Qi ZENG Fan-Yi |
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| Institution: | (Shanghai Jiaotong University School of Medicine, Shanghai Institute of Medical Genetics, Shanghai Children＇s Hospital, Shanghai 200040, China) |
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| Abstract: | DNA copy number variation（CNV） in mammalian genomes often associates with specific chromosomal rearrangements and genomic disorders. However, as a phenomenon known for a long time, the implication of CNV has not been fully realized until recently. Referring to the CNV studies which have been published in recent years, this article focused the principle of CNV, the new research method on it, and the achievements on its disease association. Here, we also propose the existing problems of CNV study and its future directions. |
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| Keywords: | copy number variation Array-comparative genomic hybridization complex disease |
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