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. 2020 Jul 3;5(9):1472–1485. doi: 10.1016/j.ekir.2020.06.029

Figure 1.

Figure 1

Genetic map of rs4293393 and UMOD with a representative autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD-UMOD) pedigree demonstrating rs4293393-UMOD haplotype inheritance. (a) Genetic map of rs4293393 and UMOD, showing the linkage disequilibrium of rs4293393 with the UMOD mutations (mUMODs) found in this cohort study; 124 of 125 mUMODs occurred in exons 3 and 4 and were in a region of complete linkage disequilibrium with rs4293393. (b) Representative 4-generation ADTKD-UMOD pedigree. Genetically affected individuals are represented by black symbols, and the rs4293393-mUMOD haplotype is shaded gray. The rs4293393 allele (in this case “A”) is in phase with the mUMOD (designated m). In all genetically affected family members (due to linkage disequilibrium of rs4293393 and the UMOD gene [A]), the rs4293393-mUMOD haplotype is inherited together. In contrast, the rs4293393–wild-type UMOD (designated WT) haplotype inherited from the unaffected parent varies in subsequent generations based on the rs4293393-WT UMOD haplotypes of the unaffected parent. gDNA, genomic DNA; SNP, single nucleotide polymorphism; UTR, untranslated region.