野兔和乌龟：四个单核苷酸多态性的一小步，SNP 界的一大步。
The hare and the tortoise: one small step for four SNPs, one giant leap for SNP-kind.
机构信息
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs CB10 1SA, UK.
出版信息
Forensic Sci Int Genet. 2010 Feb;4(2):59-61. doi: 10.1016/j.fsigen.2009.08.005. Epub 2009 Sep 2.
Abstract
A recently published study has used next-gen sequencing technology to resequence two Y chromosomes separated by 13 generations and discovered four single-base differences in approximately 10Mb DNA, suggesting that the Y chromosome euchromatin accumulates around one mutation per generation. Y-SNPs therefore now offer the best resolution of Y haplotypes and promise to distinguish almost every Y chromosome. This work illustrates the promise of current sequencing technology for forensically relevant applications.
摘要
最近发表的一项研究使用下一代测序技术对相隔 13 代的两条 Y 染色体进行了重测序，发现了大约 10MbDNA 中的四个单碱基差异，表明 Y 染色体常染色质每代积累约一个突变。因此，Y-SNPs 现在提供了最佳的 Y 单倍型分辨率，并有望区分几乎每一条 Y 染色体。这项工作说明了当前测序技术在法医学相关应用中的前景。
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Curr Biol. 2009 Sep 15;19(17):1453-7. doi: 10.1016/j.cub.2009.07.032. Epub 2009 Aug 27.
2
Improving global and regional resolution of male lineage differentiation by simple single-copy Y-chromosomal short tandem repeat polymorphisms.通过简单的单拷贝Y染色体短串联重复序列多态性提高男性谱系分化的全球和区域分辨率。
Forensic Sci Int Genet. 2009 Sep;3(4):205-13. doi: 10.1016/j.fsigen.2009.01.009. Epub 2009 Feb 23.
3
Y chromosome haplotype reference database (YHRD): update.Y染色体单倍型参考数据库（YHRD）：更新
Forensic Sci Int Genet. 2007 Jun;1(2):83-7. doi: 10.1016/j.fsigen.2007.01.017. Epub 2007 Mar 2.
4
The diploid genome sequence of an Asian individual.一名亚洲个体的二倍体基因组序列。
Nature. 2008 Nov 6;456(7218):60-5. doi: 10.1038/nature07484.
5
Accurate whole human genome sequencing using reversible terminator chemistry.使用可逆终止子化学法进行准确的全人类基因组测序。
Nature. 2008 Nov 6;456(7218):53-9. doi: 10.1038/nature07517.
6
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7
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A comprehensive survey of human Y-chromosomal microsatellites.人类Y染色体微卫星的全面调查。
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