Arcot S S, DeAngelis M M, Sherry S T, Adamson A W, Lamerdin J E, Deininger P L, Carrano A V, Batzer M A
Human Genome Center, Lawrence Livermore National Laboratory, Livermore, CA 94551, USA.
Mutat Res. 1997 Sep;382(1-2):5-11. doi: 10.1016/s1383-5726(97)00002-2.
Two new polymorphic Alu elements (HS2.25 and HS4.14) belonging to the young (Ya5/8) subfamily of human-specific Alu repeats have been identified. DNA sequence analysis of both Alu repeats revealed that each Alu repeat had a long 3'-oligo-dA-rich tail (41 and 52 nucleotides in length) and a low level of random mutations. HS2.25 and HS4.14 were flanked by short precise direct repeats of 8 and 14 nucleotides in length, respectively. HS2.25 was located on human chromosome 13, and HS4.14 on chromosome 1. Both Alu elements were absent from the orthologous positions within the genomes of non-human primates, and were highly polymorphic in a survey of twelve geographically diverse human groups.
已鉴定出两个新的多态性Alu元件（HS2.25和HS4.14），它们属于人类特异性Alu重复序列的年轻（Ya5/8）亚家族。对这两个Alu重复序列的DNA序列分析表明，每个Alu重复序列都有一个长的富含3'-寡聚腺苷的尾巴（长度分别为41和52个核苷酸），且随机突变水平较低。HS2.25和HS4.14分别侧翼有长度为8和14个核苷酸的短精确直接重复序列。HS2.25位于人类13号染色体上，HS4.14位于1号染色体上。在非人类灵长类动物基因组的直系同源位置均未发现这两个Alu元件，并且在对十二个地理分布不同的人类群体的调查中，它们具有高度多态性。
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