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Nucleic Acids Research, 1983, Vol. 11, No. 24 8569-8582
© 1983

MOLECULAR BIOLOGY

Characterization of an unusual DNA length polymorphism 5' to the human antithrombin III gene

Susan Clark Bock and Diane J. Levitan

Rockefeller University 1230 York Avenue, Box 113, New York, NY 10021, USA

Received October 17, 1983. Revised October 17, 1983. Accepted November 16, 1983.

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.


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