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Figure 2 | BMC Medical Genetics

Figure 2

From: An association study on contrasting cystic fibrosis endophenotypes recognizes KRT8 but not KRT18 as a modifier of cystic fibrosis disease severity and CFTR mediated residual chloride secretion

Figure 2

Mikrosatellite KRT8Sat allele distributions on KRT8 SNP background. Pictograms show the allele distribution of KRT8Sat. The reference sequence for the dinucleotide repeat KRT8Sat is (CA)12(TA)(CA)2(TA)(CA)4 starting at position 15442813 on contig NT_029419. Alleles were calibrated in arbitrary repeat units using an invariant set of controls for all analyses. Six alleles were observed in the entire population, differing in size by one, three, four, seven and eight dinucleotide units in reference to the smallest allele observed. A: Allele distribution at KRT8Sat, observed among 101 CF families with a total of 171 patients. B: Distribution of KRT8Sat alleles on SNP allele background, given for allele 1 at SNP markers (left column) and allele 2 at SNP markers (right column). Alleles at all PCR-RFLP typed SNPs are named for absence (allele 1) or presence (allele 2) of diagnostic restriction site. SNPs rs1907671 (top row), rs4300473 (2nd row), rs2035878 (3rd row) and rs2035875 (bottom row) are shown. See text for details.

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BMC Medical Genetics

ISSN: 1471-2350

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