Economou E P, Bergen A W, Warren A C, Antonarakis S E
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
Proc Natl Acad Sci U S A. 1990 Apr;87(8):2951-4. doi: 10.1073/pnas.87.8.2951.
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 AluVpA [Alu variable poly(A)] may represent one of the most useful and informative group of DNA markers in the human genome.
为了鉴定在人类基因组中丰富且可通过基因组DNA的聚合酶链反应扩增检测到的DNA多态性，我们检验了这样一个假设，即重复元件Alu家族的聚脱氧腺苷酸序列在人类染色体中是多态的。我们分析了三个特定Alu序列的3'末端，发现其中两个（在腺苷脱氨酶基因和β-珠蛋白假基因中）是多态的。这种新型的多态性，称为AluVpA[Alu可变聚（A）]，可能代表人类基因组中最有用和信息丰富的DNA标记组之一。
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