Table 3. Mutational analysis of the hMLH1 and hMSH2 genes in patients with multiple adenomatous polyps and controls.
| Gene | Exon/Intron | accession no. | Nucleotide position | Codon | Allele 1 | Allele 2 | Mutation | No. of patients | No. of controls | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| hMLH1 | Exon 1 | NM42_000249 | 86 | 22 | GGG | GCG | G22A | 1 | 1/483 | 49 |
| hMLH1 | Exon16 | NM42_000249 | 1873/1874 | 618 | AAG | GCG | K618A | 4 | 10/482 | 26 |
| hMSH2 | Exon 1 | U03911 | 141 | 46 | CAC | CAG | H46Q | 1 | 0/483 | This work |
| hMSH2 | Exon 4 | U03911 | 795i + 5 | Exon 4 SDS | A | G | IVS4 + 5 | 1 | 0/474 | This work |
| hMSH2 | Exon14 | U03911 | 2425 | 808 | GAA | TAA | E808X | 1 | 0/481 | This work |
The number of patients tested in each case was 124, whereas the number of controls tested varied from 474 to 483 as indicated. The numbering of intronic sequence variants is determined from the nearest coding nucleotide (i.e., 795i + 5 is 5 base pairs 3′ of the end of exon 4 in hMSH2). Changes referred as “This work” have not been previously reported in the www.insight-group.org database or referenced. Allele 1 is the common allele, and Allele 2 is the variant. The altered nucleotide giving rise to the variant allele is underlined. SDS, splice donor site.