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基因组拷贝数变异与妇科恶性肿瘤的相关性研究进展 被引量:3

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摘要 人类基因组中存在大量大于 1 kb 但小于 3 Mb 的DNA 片段多态,包括片段的插入、缺失、重复等,这种多态被称为拷贝数变异( CNV)。CNVs 可能和SNPs 一样影响基因的表达、表型变异和适应,一些出现在健康人群的基因组中,导致基因表达量改变,但不引起疾病;还有一些通过改变基因组的结构引起人类遗传疾病,即基因组疾病。基因组多位点的改变可以引起基因组和分子表型的异质性,导致包括肿瘤在内的复杂性疾病的发生与发展。
出处 《中国妇幼保健》 CAS 2019年第10期2411-2414,共4页 Maternal and Child Health Care of China
基金 甘肃省自然科学基金(18JR3RA036 1606RJZA151 1606RJZA171)
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