A Second Leaky Splice-Site Mutation in the Spastin Gene

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A Second Leaky Splice-Site Mutation in the Spastin Gene Ingrid K. Svenson, Allison E. Ashley-Koch, Margaret A. Pericak-Vance, Douglas A. Marchuk The American Journal of Human Genetics Volume 69, Issue 6, Pages 1407-1409 (December 2001) DOI: 10.1086/324593 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 1 A, The pSPL3 exon-trapping vector was used to assay splice-site selection. COS1 cells were transfected with vector alone (pSPL3), with wild-type exons 10–12 and flanking intronic sequence (wild type), or with the same construct but containing the IVS11+2t insertion (mutant). Top panel, Schematic showing construct design, vector-specific primers used for amplification (horizontal arrows), site of mutation (vertical arrow), and splice variants a, b, and c. Bottom panel, Transcripts identified on the basis of sequencing of the correspondingly labeled RT-PCR products (a, b, and c). B, RT-PCR analysis of RNA extracted from a lymphoblastoid cell line from a normal control individual (control), from a patient heterozygous for the IVS11+2t insertion (2187), or from a mouse E2-human hybrid cell line hemizygous for human chromosome 2, without (wild type) or with (mutant) the IVS11+2t insertion. Top panel, Schematic showing positions of primers used for amplification (horizontal arrows), site of mutation (vertical arrow), and splice variants a and b. Bottom panel, Transcripts identified on the basis of sequencing of the correspondingly labeled RT-PCR products (a and b). The American Journal of Human Genetics 2001 69, 1407-1409DOI: (10.1086/324593) Copyright © 2001 The American Society of Human Genetics Terms and Conditions