SNP haplotypes in the RSPH4A gene.

SNPs: S1: rs13213314; S2: rs41289942; S3: re117169123; S4: rs6927567; S5: rs784133; S6: 41290844; S7: rs9488991; S8: new; S9: new; S10: rs9488993; S11: rs6925922. Mutations: M1: Q109X (rs118204042); M2: W356X (new); M3: R490X (rs118204043); M4: IVS3+(2–5)del (new). Only the derived (non-ancestral) alleles are indicated in the haplotype variants; causative alleles in the “mutated” haplotypes are in bold. Counts of each haplotype in the examined PCD and non-PCD chromosomes are indicated in two rightmost columns; haplotype frequency distribution did not significantly differ between the affected and non-affected chromosomes (Fisher exact test, not shown). The single haplotype 3r, carrying one of two R490X alleles, contains a putative recombination between the mutation-carrying haplotype 3 and the frequent neutral haplotype 8. An asterisk indicates two mutation-carrying chromosomes found in the single consanguineous family. N1 = TAGG in IVS3_2–5; N2 = GATACTCACAG in 3′UTR; D1 = TAGG deletion in intron 3; D2 = GATACTCACAG deletion in 3′UTR; e – exon; i – intron; 3′ – 3′UTR.