Large-scale copy number polymorphism in the human genome
Large-scale copy number polymorphism in the human genome
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DOI：
10.1126/science.1098918
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发表时间：
2004-07-23
期刊：
影响因子：
56.9
通讯作者：
Wigler, M
中科院分区：
文献类型：
--
作者：
Sebat, J;Lakshmi, B;Wigler, M
大型重复和缺失导致人类遗传变异和多样性的程度尚不清楚。在这里，我们表明，大规模拷贝数多态性（CNP）（约100千酶和更大）对正常人之间的基因组变异产生了重大贡献。对20个个体的代表性寡核苷酸微阵列分析显示，共有221个拷贝数差异，代表76个独特的CNP。平均而言，个体差异11 CNP，CNP间隔的平均长度为465千碱基。我们观察到CNP间隔内70个不同基因的拷贝数变化，包括涉及神经功能的基因，细胞生长的调节，代谢的调节以及已知与疾病相关的几种基因。
The extent to which large duplications and deletions contribute to human genetic variation and diversity is unknown. Here, we show that large-scale copy number polymorphisms (CNPs) ( about 100 kilobases and greater) contribute substantially to genomic variation between normal humans. Representational oligonucleotide microarray analysis of 20 individuals revealed a total of 221 copy number differences representing 76 unique CNPs. On average, individuals differed by 11 CNPs, and the average length of a CNP interval was 465 kilobases. We observed copy number variation of 70 different genes within CNP intervals, including genes involved in neurological function, regulation of cell growth, regulation of metabolism, and several genes known to be associated with disease.