Skip to main content
Figure 2 | BMC Medical Genetics

Figure 2

From: A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome

Figure 2

Familial analysis of telomere length and disease manifestations. A. The average telomere length in the patient was significantly short compared to age-matched healthy controls. Telomere length (TL) was measured by qPCR and calculated as the telomere to single copy gene ratio (T:S ratio). The figure illustrates the standard curve for age-related telomere length shortening in healthy donors (small open circles). The TL of each specimen is shown as follows; the patient peripheral blood (PB), ▲; the patient’s sperm, Δ; PB of the patient’s son, ; whole PB of the patient’s father, , CD3-negative PB of the patient’s father, ■; CD3-positive PB of the patient’s father, □; CD3-negative PB of the patient’s mother, ; CD3-positive PB of the patient’s mother, ; and PB of the patient’s siblings, sister and brother . B. Pedigree analysis. The family members within the shaded box were tested for the A377G TERC mutation and telomere length. The proband is indicated with an arrow. Filled symbols represent individuals carrying the A377G mutation, whereas open symbols are individuals with no mutation. Squares; males, and circles; females. BMF, bone marrow failure; MI, myocardial infarction; DM, diabetes mellitus; and MDS, myelodysplastic syndrome.

Back to article page