Spectrum of spontaneous HPRT mutations in TK6 human lymphoblasts
- 1 January 1993
- journal article
- Published by Wiley in Environmental and Molecular Mutagenesis
- Vol. 22 (3) , 138-146
- https://doi.org/10.1002/em.2850220305
Abstract
The occurrence of deletions, coding sequence alterations, and intronic changes leading to aberrant splicing has been characterized among 33 spontaneous HPRT− mutants in TK6 human lymphoblasts. Deletions detectable by multiplex PCR amplification accounted for 45% (15/33) of the mutant collection. Base substitutions represented 30% (10/33) of the total, and were predominated by changes at G:C base pairs. The remaining mutants were distributed among frameshifts (9%, 3/33), small deletions (6%, 2/33), and compound alterations (9%, 3/33). Five mutants (15%) demonstrated aberrant splicing of the hprt transcript. A cluster of 4 deletion/insertion events was identified in hprt exon 6. A nearly perfect 13 bp duplication differed from the original sequence only by an A:T to G:C transition, which was observed as a unique alteration in another HPRT− mutant. A model involving correction of a mismatch in a secondary structure formed by the duplicated sequence may account for these results.Keywords
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