Figure 2
Results of direct sequencing of the exon 1C-inton 1C boundary region. Schematic representation of SERPINA1 gene is represented in the top showing position of the non-coding exons 1A, 1B and 1C and coding exons E2 to E5. Location of the common polymorphisms M1 (exon 3), M2 (exon 2) and M3 (exon 5) of this gene are also displayed. Position of the variants QOPorto and QOMadrid is marked with an arrow. Sequencing results of the patients are shown below. Comparison between a reference sequence from a normal individual (top sequence) and sequence from individuals II-1 and II-2 (middle panel) showing a heterozygous G to A change corresponding to the QOPorto. Bottom panel corresponds to direct sequencing of cases II-3 and II-4 that reveals heterozygosity for both QOPorto and the new QOMadrid (+2dupT) mutation.