Figure 1
Figure 1. ACD/TPP1 mutation and telomere length in family with history of anemia and cancer. (A) Pedigree and clinical diagnoses of family. The genotypes of the proband and 4 of her family members are shown (+/+ for homozygous WT and +/ΔK170 for heterozygous deletion). Numbering of individuals corresponds with numbering in supplemental Table 1. (B-C) Telomere lengths of 5 family members were measured by Flow-FISH (B) or qPCR (C). Red symbols indicate individuals with the ΔK170 mutation, and blue symbols indicate WT individuals. Curves represent the 1st, 10th, 50th, 90th, and 99th percentiles of telomere lengths in ∼240 healthy individuals. diag., diagnosed.

ACD/TPP1 mutation and telomere length in family with history of anemia and cancer. (A) Pedigree and clinical diagnoses of family. The genotypes of the proband and 4 of her family members are shown (+/+ for homozygous WT and +/ΔK170 for heterozygous deletion). Numbering of individuals corresponds with numbering in supplemental Table 1. (B-C) Telomere lengths of 5 family members were measured by Flow-FISH (B) or qPCR (C). Red symbols indicate individuals with the ΔK170 mutation, and blue symbols indicate WT individuals. Curves represent the 1st, 10th, 50th, 90th, and 99th percentiles of telomere lengths in ∼240 healthy individuals. diag., diagnosed.

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