Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during transfection proto-oncogene in Chinese familial hirschsprung’s disease

Figure 1 Pedigree of families one and two and SSCP analysis in exon 13 of RET proto-oncogene. A: Pedigree of family one and SSCP analysis in exon 13 of RET proto-oncogene Lane 1: healthy control; Lane 2: I 1; Lane 3: I 2; Lane 4: II 1; Lane 5: II 2; Lane 6: III (proband); Lane 7: healthy control; B: Pedigree of family two and SSCP analysis in exon 13 of RET proto-oncogene. Lane 1: II ; Lane 2: healthy control; Lane 3: I 1; Lane 4: I 2.

Figure 2 Sequence analysis of RET gene in patients with aberrant SSCP patterns. The arrows indicate the position of mutation. A: A G heterozygous insertion at nucleotide 18 974 in exon 13, resulted in a frameshift mutation; B: A T to G transition at codon 745 in exon 13 was exchanged from CTT to CTG, resulting in a silent mutation; C: An A to G transition at codon 756 in exon 13 resulted in a K→E missense mutation; D: A G to A substitution at codon 667 in exon 11 resulted in a G→S missense mutation; E: A G to A substitution at codon 916 in exon 15 resulted in a silent mutation.