Figure 4

Distribution of the 7-position SNP haplotype variants among the studied chromosomes. Positions of the pathogenic mutations are indicated in on the SNP haplotype background. H1 through H8r2 are arbitrary names of the variants of the 7-position SNP haplotype. SNP1, 2, 3, 4, 5, 6 and 7 denote, respectively, rs11547035, rs4879792, rs2274591, rs3793472, rs11793196, rs9657620, rs11999046. Letters "0" and "1" in the left section of this Figure indicate, respectively, the ancestral and derived allele of the SNPs (the ancestral alleles were determined from the human-chimpanzee comparison, with the sequence identity indicating the ancestral state). Minimal regions of recombination (letter "r" in the haplotype name) in the rare haplotype variants, proposed assuming most parsimonious recombination among the frequent variants, and taking into account the extent of LD in the gene region (Figure 5), are highlighted. Right section of the Figure indicates the number of chromosomes with the respective haplotype variants. *G > A at rs11793196 and c.1612 are transitions at CpG dinucleotides. ^†Mutation A538T on the H1 background was found only in KS families; A538T on the H8r2 was found in a CDO family. ^‡Recombination detected within the PCD family. ^§ "0-1" at the last position of the H6 haplotype denotes ancestral allele (G) at rs11999046, linked with the derived allele (A) 93 nt downstream from rs11999046. **Unknown mutation(s) in two PCD families.