Genomic rearrangements and sporadic disease
Genomic rearrangements and sporadic disease
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DOI：
10.1038/ng2084
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发表时间：
2007-07-01
期刊：
影响因子：
30.8
通讯作者：
Lupski, James R.
中科院分区：
文献类型：
--
作者：
Lupski, James R.
许多临床表型发生零星尽管遗传贡献部分或全部原因。在多大程度上，新生突变是散发性性状的原因？基因组重排的位点特异性突变率似乎比碱基替换的核苷酸特异性突变率大2到4个数量级。高分辨率基因组分析的广泛实施，以检测新生拷贝数变异，可以确定以前难以通过传统遗传分析的性状的原因。
Many clinical phenotypes occur sporadically despite genetics contributing partly or entirely to their cause. To what extent are de novo mutations the cause of sporadic traits? Locus-specific mutation rates for genomic rearrangements appear to be two to four orders of magnitude greater than nucleotide-specific rates for base substitutions. Widespread implementation of high-resolution genome analyses to detect de novo copy-number variation may identify the cause of traits previously intractable to conventional genetic analyses.