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. 2002 Feb 19;70(4):1054–1057. doi: 10.1086/339691

Figure 1.

Figure 1

A, Splice-site mutation. The IVS18+2t→a splice-site mutation results in use of a cryptic splice site in exon 18 and deletion of the terminal 21 nucleotides of exon 18. RT-PCR of mRNA from the patient's fibroblasts (using as primers sequence contained in exon 8 and in exon 20 [5′- GACGTCCAGTGGAACGA and 5′-CAGTGCGATCTAGGGAGA]) revealed a single amplification product of apparently correct size of 1.88 kb (not shown). Direct sequence analysis of the RT-PCR product with an antisense primer located in exon 20 revealed only homogenous sequence indicating lack of detectable normally spliced mRNA and containing the abnormal splice with deletion of the terminal 21 nucleotides in exon 18 and splicing to exon 19 on the allele not bearing the large 8-kb deletion. B, Deletion mutation. Deletion junction between IVS7 and IVS15 resulting from an 8.26-kb genomic deletion extending from IVS7–19 to IVS15–17. Sequence analysis of the smaller than normal product resulting from amplification with primers in IVS5 and IVS16 (726 bp vs. 9.027 kb) revealed the site of the deletion junction, depicted graphically. The deletion extends from IVS7–19 to IVS15–17); (cagcagacggtgtgccatc).