Characterization of an unusual DNA length polymorphism 5' to the human antithrombin III gene.
Characterization of an unusual DNA length polymorphism 5' to the human antithrombin III gene.
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人类抗凝血酶 III 基因 5 端异常 DNA 长度多态性的表征。
DOI：
10.1093/nar/11.24.8569
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发表时间：
1983
影响因子：
14.9
通讯作者：
Levitan,DJ
中科院分区：
文献类型：
--
作者：
Bock,SC;Levitan,DJ
核苷酸序列分析表明，人抗凝血酶Ⅲ基因5'端DNA长度多态性是由于在翻译起始密码子上游345bp处存在32bp或108bp的非同源核苷酸序列（可变片段）。两个可变片段3'端的序列可与下游序列形成链内反向重复结构。反向重复序列也被发现紧邻可变区段所在位点的5'。因此，在这种DNA长度多态性的两个等位基因的可变区段的侧翼可以形成十字形结构。在含有ATIII长度多态性的克隆等位基因的重组质粒中映射S1核酸酶敏感位点。对S1最敏感的位点位于可变片段的上游，在富含AT的片段的两侧是6bp的直接重复序列。在可变区段的5'反向重复序列之间形成的富含AT的环中也观察到核酸酶敏感性较低的区域。
Nucleotide sequence analysis revealed that a DNA length polymorphism 5' to the human antithrombin III gene is due to the presence of 32bp or 108bp nonhomologous nucleotide sequences (variable segments) 345bp upstream from the translation initiation codon Sequences at the 3' borders of both variable segments can form intrastrand inverted repeat structures with sequences further downstream. An inverted repeat is also found immediately 5' to the site where the variable segments are located. Thus, cruciform structures may form flanking the variable segments of both alleles of this DNA length polymorphism.DNA secondary structure may be detected with single strand specific nucleases. S1 nuclease sensitive sites were mapped in recombinant plasmids containing the cloned alleles of the ATIII length polymorphism. The site most sensitive to S1 is located upstream from the variable segments in an AT-rich segment flanked by 6bp direct repeats. A region of lesser nuclease sensitivity was also observed in the AT-rich loops formed between the inverted repeats 5' to the variable segments.