DNA Compression Caused by an Upstream Point Mutation

Autor: Brian G. Weinshenker, David D. Hebrink, A. Marquis Gacy, Cynthia T. McMurray
Jazyk: angličtina
Rok vydání: 1998
Předmět:
Zdroj: BioTechniques, Vol 25, Iss 1, Pp 68-72 (1998)
Druh dokumentu: article
ISSN: 1940-9818
0736-6205
DOI: 10.2144/98251st01
Popis: We observed an apparent series of insertions and deletions beginning 5 bp downstream of an A→G silent transition in exon 1 of the tumor necrosis factor receptor 1 gene. The apparent sequence anomaly was observed only in individuals carrying the transition. Formamide gel electrophoresis revealed that the apparent sequence anomaly was due to compression. The compression is plausibly explained by a hairpin in the reaction products in a region of trinucleotide CAG repeats. One should suspect the presence of DNA compression when a series of deletions and insertions follows a single base pair mutation that leads to a series of trinucleotide repeats.
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