Synergistic effect of interleukin-10-receptor variants in a case of early-onset ulcerative colitis

Figure 1 Molecular characterisation of variant alleles within interleukin-10 receptor genes in the inflammatory bowel diseases family members. A: Pedigree of the inflammatory bowel diseases (IBD) family and genomic single-nucleotide polymorphisms identified: interleukin-10 (IL10) RA: - 413G->T (A); IL10RA-rs.: 2256111 Esone 4 c.549A->G (p.153Ala->Ala) (B); IL10RA-rs.:2229113 Esone 7 c.1051A->G (p.351Arg->Gly) (C); IL10RA-rs.:9610 3’UTR c.2543G->A (D); IL10RB-rs.: 2834167 Esone 1 c.139G->A (p.47 Lys ->Glu) (E); B: Sequence analysis of IL10RA promoter region. Sequence analysis was performed on amplified fragments from gDNA of the patients. Reported here are the electropherogram around the identified mutation - 413G->T. The specific mutated nucleotide is shown within the black box; C: Gel-electrophoresis of the amplification refractory mutation-polymerase chain reaction performed for the - 413G->T IL10RA promoter mutations. Patient numbering corresponds to that adopted in the shown above pedigree.