AMPLIFICATION DYNAMICS OF HUMAN-SPECIFIC (HS) ALU FAMILY MEMBERS
AMPLIFICATION DYNAMICS OF HUMAN-SPECIFIC (HS) ALU FAMILY MEMBERS
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DOI：
10.1093/nar/19.13.3619
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发表时间：
1991-07-11
影响因子：
14.9
通讯作者：
DEININGER, PL
中科院分区：
文献类型：
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作者：
BATZER, MA;GUDI, VA;DEININGER, PL
我们调查了最近插入的几个Alu家族成员在不同人类群体代表中的分布。使用65个不相关的人类DNA样本进行的人口研究，以及一项测试遗传的家族研究表明，Alu家族的个体成员可以分为三组。第一组由相对较老的Alu家族成员组成，在整个被测群体（HS C3N1和C4N6）中均为单态（纯合子）。第二组（HS C4N2， C4N5和C4N8）显然插入到基因组的其他重复区域，导致使用的PCR测试结果不确定。然而，很明显，这些特殊的Alu插入存在于大多数（如果不是全部的话）被测试的基因座中。第三组由3个二态Alu家族成员（HS C2N4、C4N4和TPA 25）组成。在人群中，只有一个Alu家族成员（tpa25）表现出高度的二态性。后一个例子也显示了不同人群中不同的等位基因频率。高二态Alu家族成员的分离和鉴定将为人类群体遗传学研究提供有用的工具。
We have investigated the distribution of several recently inserted Alu family members within representatives of diverse human groups. Human population studies using 65 unrelated human DNA samples, as well as a familial study to test inheritance, showed that individual Alu family members could be divided into three groups. The first group consisted of relatively older Alu family members which were monomorphic (homozygous) throughout the population tested (HS C3N1 and C4N6). The second group (HS C4N2, C4N5 and C4N8), apparently inserted into other repetitive regions of the genome, resulting in inconclusive results in the PCR test used. However, it is clear that these particular Alu insertions were present in a majority if not all of the loci tested. The third group was comprised of three dimorphic Alu family members (HS C2N4, C4N4 and TPA 25). Only a single Alu family member (TPA 25) displayed a high degree of dimorphism within the human population. This latter example also showed different allele frequencies in different human groups. The isolation and characterization of additional highly dimorphic Alu family members should provide a useful tool for human population genetics.