First report of a de novo germline mutation in the MLH1 gene

Figure 1 Denaturing gradient gel electrophoresis (DGGE) analysis of exon 18 of MLH1 gene. Lanes 1 and 2: Father and mother, respectively; lane 3: index patient.

Figure 2 DNA sequence analysis of exon 18 of MLH1 gene. (a) A control sample without mutation, (b) the index patient showing a C to T substitution of base 2 101 leading to Gln701Stop.

Figure 3 Paternity test using six highly informative microsatellites. a: The index patient; b: his father; c: his mother.