Figure 6

Schematic representation of partial LOHs in the MSH2 gene. A: The structure of the MSH2 gene with 16 exons (open boxes numbered 1-16). Exon and intron (solid line) sizes are drawn approximately to scale. B: The scheme of two MSH2 alleles (a1, a2) in the tumor of patient SK-14 displaying retention of heterozygosity (no LOH) at del1-7 (dotted line) and LOH at SNP markers c.1511-91G>T, c.1511-9A>T, c.1661+12G>A, and c.1759+107A>G. C: The scheme of two MSH2 alleles (a1, a2) in the tumor of patient SK-20 displaying retention of heterozygosity (no LOH) at dup5-6 (presumably tandemly arranged) and LOH at SNP markers c.211+9C>G, c.211+98C>T, both in intron 1, and c.1277-118G>A in intron 7. MinCT, minimal converted tract; MaxCT, maximal converted tract; the initiating point of putative gene conversion can lie anywhere within the blue colored box; question mark indicates that extension of MaxCT and MinCT remains unknown. Note: The term 'initiating point' is not used in the sense to indicate direction of gene conversion; LOH status in the SK-20 tumor (C panel) at the c.211+9C>G and c.211+98C>T loci has been observed previously [28].