[Telomere length measurement of 10 Chinese patients with bone marrow failure syndrome.].

OBJECTIVE:To measure telomere length of patients with bone marrow failure syndrome (BMFS) and explore the relationship between telomerase gene mutation and telomere shortening. METHODS:Blood samples from 10 patients with AA, MDS-RA were collected and performed TERC and TERT gene mutation analysis. Telomere length was measured by Southern blot and compared with normal controls and two patients with MDS-RAEB and AML each. RESULTS:Two patients in the 10 BMFS patients had TERC and TERT gene mutations and very short telomeres compared with normal controls and with the 8 BMFS counterparts, the telomere length was less than 50% of that of normal control, and was similar to that of patients with MDS-RAEB and acute myelogenous leukemia, indicating the possibility of malignant transformation. Some BMFS patients with no mutations also had short telomeres. CONCLUSIONS:BMFS patients with telomerase gene mutation have very short telomeres, being similar to that of hematological malignancies. Some BMFS patients with no telomerase gene mutations also have short telomere length.