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. Author manuscript; available in PMC: 2012 May 1.
Published in final edited form as: Hum Mutat. 2010 May;31(5):552–560. doi: 10.1002/humu.21223

Figure 1.

Figure 1

Genotypes of hybrid allele-determinating SNPs in exons 13 to 15 observed with cDNA sequencing in 42 European individuals and inferred haplotypes. In the upper part of the figure the location of the SNPs in the PMS2 gene map is shown. PDSs are indicated with gray underlay. The gene-specific variants are given in green and the pseudogene-specific variants in red letters. Variants c.2340C>T, c.2466T>C, and c.*17G>C are indicated in blue. Six different genotypes containing pseudogene-specific variants were found. Three different hybrid-allele haplotypes were deduced and named H1, H2, and H3. Alleles containing only gene-specific variants were named N ( = normal). The number of observed genotypes and alleles (n) and their frequency (%) is given. In H1 alleles, pseudogene-derived sequence variants were observed in a region that exceeds 5 kb at genomic DNA level, while they were detected within a 215-bp region in H2 and H3 alleles.