[Study on telomerase gene mutation in northern Chinese patients with acquired bone marrow failure syndromes.].
OBJECTIVE
To study the frequency of telomerase gene (TERC and TERT) mutation in Northern Chinese patients with acquired bone marrow failure syndromes (BMFS).


METHODS
DNA extracted from blood samples of 90 patients with BMFS (including AA, MDS, and PNH) and 45 normal controls from 4 northern hospitals was collected. TERC and TERT mutation analysis was performed by PCR.


RESULTS
Two TERC mutations (n37 A-->G, and n66 G-->C) and two TERT mutations \[n1870 G-->T (E/*)\]; and \[n1780 G-->T (S/I)\] were identified in 90 BMFS patients. Among them, 3 mutations were reported for the first time. One patient with TERT mutation, however, was finally diagnosed as DKC instead of acquired AA, making the incidence of telomerase gene mutation in northern Chinese people with acquired BMFS 3.4%, similar to that of the western country people.


CONCLUSIONS
The incidence of telomerase gene mutation in northern Chinese people with acquired bone marrow failure syndromes is 3.4%, similar to that of the western country people.
Liu
Bo
B
Department of Hematology, Peking Union Medical College Hospital, Beijing 100730, China.
Han
Bing
B
Wang
Xuan
X
Cui
Wei
W
Lin
Jie
J
Zhao
Yong-Qiang
YQ
D004252:DNA Mutational Analysis; D006801:Humans; D009154:Mutation; D012313:RNA / Q000235:genetics; D013577:Syndrome; D019098:Telomerase / Q000378:metabolism
D012313:RNA; D019098:Telomerase