Contribution of G71R mutation to Gilbert’s syndrome phenotype in a Greek patient: A case report

Figure 1 Electrophoresis on a 12% polyacrylamide gel. Lane 1: Proposita’s motif A(TA)₆TAA/A(TA)₇TAA; Lane 2: Father’s motif A(TA)₆TAA/A(TA)₆TAA; Lane 3: Mother’s motif A(TA)₇TAA/A(TA)₇TAA.

Figure 2 Nucleotide analysis of exon I of UGT1A1 gene, G>A at nt211, G71R mutation.

Figure 3 G71R G>A at nt +211, polymerase chain reaction-RFLPs analysis. Electrophoresis on a 4% agarose gel of polymerase chain reaction (PCR) products from exon I. Lane 1: PCR product (235 bp); lanes 2-4: PCR products digested with MspI; Lane 5: 100 bp ladder. Lane 2 shows a heterozygote for G71R mutation (proposita’s PCR product, 235 bp + 203 bp + 32 bp), Lane 3 shows a wild type for G71R mutation (mother’s PCR product, 203 bp + 32 bp), Lane 4 shows a hetorozygote for G71R mutation (father’s PCR product, 235 bp + 203 bp + 32 bp).