Mutation screening of mismatch repair gene Mlh3 in familial esophageal cancer

Figure 1 PCR results of hMLH3 fragments on 2% agarose gel electrophoresis. M: Molecular marker.

Figure 2 Normal and abnormal DHPLC chromatogram. The normal control appears as a clear elution peak, while one or more additional earlier eluting peaks result from heteroduplex for mutated DNA.

Figure 3 Sequencing results revealing two heterozygous variants in fragment 7 of exon 1, C2825T and C2838A. On the basis of amino acid variation, C2825T (Thr9421Ile) is considered a missense mutation, while C2838A (Ser947Ser) a polymorphism.

Figure 4 Pedigree of families with hMLH3 variants. Symbols and abbreviations used are denoted as black symbols for esophageal cancer, gray symbols for other cancers; EC: Esophageal cancer; CRC: Colorectal cancer; Ga: Gastric cancer; Ov: Ovarian cancer; Numbers next to the diagnosis denote age at onset; genotypes are on the top right of family member symbols; +: Variant carrier; -: Nonvariant carrier.