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. Author manuscript; available in PMC: 2023 Sep 29.
Published in final edited form as: Nature. 2003 Apr 25;423(6937):293–298. doi: 10.1038/nature01629

Figure 2.

Figure 2

Point mutations in exon 11 of LMNA cause HGPS. a, Sequence traces from a normal control and two HGPS patients. b, Hypothesis for activation of a cryptic splice donor site in exon 11. c, Demonstration of the abnormal splice product using RT–PCR, showing an abnormal product of 489 bp in the two HGPS probands due to activation of the cryptic splice site. Alternative lanes to the right lack reverse transcriptase. d, Western blot using a monoclonal antibody against lamin A/C. Lanes 1, 5, 8 and 9 are from AG03506, AG03344, AG11498 and AG01972; they all carry G608G(GGC > GGT). Lane 4 is from AG10801, carrying G608S(GGC > AGC); lanes 2 and 3 are from parents of AG03506; lanes 6 and 7 are from father of AG03259 and mother of AG06917, respectively. Lanes 1–5 are from lymphoblastoid cell lines; lanes 6–9 are from fibroblasts. A protein sample from HeLa cells is in lane 10.