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. 2009 Oct 21;18(3):317–323. doi: 10.1038/ejhg.2009.181

Figure 3.

Figure 3

The c.2044+5G>C mutation generates an abnormal ELN gene transcript. (a, b) Constructs containing indicated exons (rectangle box) and introns (black horizontal line) are shown. The position of the c.2044+5G>C mutation is indicated with a star (on the right). The CMV promoter is marked by a thick horizontal arrow. The first nine nucleotides downstream of the exon–intron junction are indicated. Abnormal transcripts generated by splice-site mutation c.2044+5G>C are shown. The PTC position is indicated with a vertical line marked with a star. (c) RT-PCR analysis of transcripts produced in HEK293 cells by transfection of normal (lane 3) and c.2044+5G>C (lane 4) minigenes. Lane 1: 50 bp ladder molecular weight marker, lane 2: human cDNA pool, lane 5: negative control. Samples were amplified using oligonucleotides complementary to exons 28 and 29. The uppermost band in lane 4 pertains to a mutant 300-bp transcript containing all intron 28. The bottom band corresponds to the expected transcript of 200 bp. (d) RT-PCR analysis of elastin mRNA samples from skin fibroblast cultures of normal (lane 2) and affected (lane 4) individuals.