THE POLYDEOXYADENYLATE TRACT OF ALU REPETITIVE ELEMENTS IS POLYMORPHIC IN THE HUMAN GENOME

THE POLYDEOXYADENYLATE TRACT OF ALU REPETITIVE ELEMENTS IS POLYMORPHIC IN THE HUMAN GENOME
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DOI:
10.1073/pnas.87.8.2951
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发表时间:
1990-04-01
影响因子:
11.1
通讯作者:
ANTONARAKIS, SE
ANTONARAKIS, SE
中科院分区:
综合性期刊1区
文献类型:
--
作者:
ECONOMOU, EP;BERGEN, AW;ANTONARAKIS, SE

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为了确定DNA多态性,是丰富的人类基因组中,可检测的基因组DNA的聚合酶链反应扩增,我们测试的假设,多脱氧腺苷酸道的Alu家族的重复元件是多态性的人类染色体。我们分析了三个特定Alu序列的3“末端,发现两个(在腺苷脱氨酶基因和β-Alu基因中)是3”末端。珠蛋白假基因)多态性。这类新的多态性,被称为Alu可变多聚腺苷酸(A),可能是人类基因组中最有用和信息量最大的DNA标记之一。
To identify DNA polymorphisms that are abundant in the human genome and are detectable by polymerase chain reaction amplification of genomic DNA, we tested the hypothesis that the polydeoxyadenylate tract of the Alu family of repetitive elements is polymorphic among human chromosomes. We analyzed the 3'' ends of three specific Alu sequences and found that two (in the adenosine deaminase gene and the .beta.-globin pseudogene) were polymorphic. This novel class of polymorphisms, termed AluV pA [Alu variable poly(A)] may represent one of the most useful and informative group of DNA markers in the human genome.