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. Author manuscript; available in PMC: 2014 Jan 1.
Published in final edited form as: Inflamm Bowel Dis. 2013 Jan;19(1):115–123. doi: 10.1002/ibd.22974

Figure 2. Identification of IL10RA g.IVS5+2T>C Mutation in Genomic DNA.

Figure 2

(A) Sequencing of Exon 5 of IL10RA revealed a homozygous g.IVS5+2T>C mutation (Bottom), compared to wild-type (Top). The splice donor site, putative cryptic splice donor site, and T>C mutation are underlined. (B) RT-PCR of IL10RA (Exon 4-7) from RNA isolated from blood and ileum. Lane 1 and Lane 1-ileum is from the patient. Lanes 2-6 are controls. Right: RT-PCR of Exon 4-7 of IL10RA from RNA from the patient and her parents. (C) Sequence of abnormal PCR product shows 76bp deletion (c.690_765del) leading to a premature stop codon (underlined).