Distribution and frequency of a polymorphic Alu insertion at the plasminogen activator locus in humans.
Distribution and frequency of a polymorphic Alu insertion at the plasminogen activator locus in humans.
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人类纤溶酶原激活物基因座多态性 Alu 插入的分布和频率。
DOI：
10.1007/bf02346186
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发表时间：
1996
期刊：
影响因子：
5.3
通讯作者：
Kidd,KK
中科院分区：
文献类型：
--
作者：
Tishkoff,SA;Ruano,G;Kidd,JR;Kidd,KK
我们研究了发生在组织纤溶酶原激活剂基因(PLAT)第8内含子内的多态Alu插入的等位基因在广泛地理分布的人群中的频率分布。这是一个最近衍生的铝元素亚家族的成员，该家族在人类进化过程中一直在扩大，并继续处于易位活跃状态。我们使用“群体管”方法从19个人类群体中的每一个群体中筛选出10条染色体，以确定Plat基因座中是否存在该插入，并发现所有被测试的群体中存在或不存在该插入的情况都是二态的。我们发现平台上的EcoRI、HincII、PstI、TaqI和XmnI等位基因的多态都是由这个Alu的插入引起的。我们用限制性片段长度多态性和聚合酶链式反应分析了来自27个人类群体和38个非人类灵长类动物的1003个个体的Alu(+)和Alu(−)等位基因的频率。非人灵长类动物的Alu(−)等位基因是单态的。人类群体在等位基因频率上有很大差异，在几个群体中，这两个等位基因都很常见。我们的结果表明，插入事件发生在现代人的传播和多样化之前。
We have investigated the frequency distribution, across a broad range of geographically dispersed populations, of alleles of the polymorphicAluinsertion that occurs within the 8th intron of the tissue plasminogen activator gene (PLAT). ThisAluis a member of a recently derived subfamily ofAluelements that has been expanding during human evolution and continues to be transpositionally active. We used a “population tube” approach to screen 10 chromosomes from each of 19 human populations for presence or absence of thisAluin the PLAT locus and found that all tested populations are dimorphic for presence/absence of this insertion. We show that the previously publishedEcoRI,HincII,PstI,TaqI, andXmnI polymorphisms at the PLAT locus all result from insertion of thisAluand we use both restriction fragment length polymorphism and polymerase chain reaction analysis to examine the frequency ofAlu(+) andAlu(−) alleles in a sample of 1003 individuals from 27 human populations and in 38 nonhuman primates. Nonhuman primates are monomorphic for theAlu(−) allele. Human populations differ substantially in allele frequency, and in several populations both alleles are common. Our results date the insertion event prior to the spread and diversification of modern humans.