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人类Y染色体着丝粒中一个多态性L1反转录转座子插入。

A polymorphic L1 retroposon insertion in the centromere of the human Y chromosome.

作者信息

Santos F R, Pandya A, Kayser M, Mitchell R J, Liu A, Singh L, Destro-Bisol G, Novelletto A, Qamar R, Mehdi S Q, Adhikari R, de Knijff P, Tyler-Smith C

机构信息

Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK.

出版信息

Hum Mol Genet. 2000 Feb 12;9(3):421-30. doi: 10.1093/hmg/9.3.421.

DOI:10.1093/hmg/9.3.421
PMID:10655552
Abstract

We have identified a novel polymorphic L1 retroposon insertion, designated LY1, in the centromeric alphoid array of the human Y chromosome. The element belongs to the transpositionally active Ta subset and its presence is compatible with normal centromere function. It was found at highest frequency in China, where it accounts for 23% of the Han sample, and was present at low frequencies in the surrounding areas, but was not found at all outside Asia. Chromosomes carrying LY1 show considerable microsatellite diversity, suggesting an ancient origin for the lineage at approximately 10 000 years ago (with wide confidence limits), but only limited subsequent migration.

摘要

我们在人类Y染色体的着丝粒α卫星阵列中鉴定出一种新型多态性L1逆转座子插入,命名为LY1。该元件属于具有转座活性的Ta亚群,其存在与正常着丝粒功能相符。在中国发现其频率最高,在汉族样本中占23%,在周边地区频率较低,而在亚洲以外地区则完全未发现。携带LY1的染色体显示出相当大的微卫星多样性,这表明该谱系起源于约10000年前(置信区间较宽),但随后只有有限的迁移。

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