• Sudhir Mehta, M Krishnamohan, Sandhya Gulati, Nidhi Sharmat, Puneet Vashishtha, and Ishwar Singh.
• J Assoc Physicians India. 2014 Oct 1; 62 (10): 13-7.

AimDetection of mutations in the genes for telomerase reverse transcriptase (TERT) in patients of apparently acquired aplastic anaemia.Material And MethodsFive patients with apparently acquired aplastic anaemia and six unrelated healthy individuals were recruited for this study. The genomic DNA was extracted from whole blood of subjects (patients and controls) and amplified by Polymerase chain reaction. The amplified products were sequenced and analysed in an automated genetic-sequence analyser to identify mutations in genes encoding telomerase complex - namely DKC1, NOP10, NHP2, and TERT.ResultIn this study, mutations were observed in both coding and non-coding regions of TERTgene. Out of five patients, four patients had novel nonsynonymous mutation in TERT. Another substitution mutation was found in DKC1 gene in a healthy control. There was an important observation that two healthy controls had mutations in the coding region of TERTand DKC1 genes, but no symptoms or haematological abnormalities were expressed in both controls.There was no significant difference observed (Z = 0.666; P = 0.506) between two groups (controls and patients) with respect to no. of individuals having mutations.ConclusionThe present study was undertaken to evaluate the mutation spectrum in the genes implicated in aplastic anaemia, i.e. TERT, DKC1, NOP10, and NHP2 in small case-control group (5 + 6). We have been successful in finding mutations in TERTand DKC1 while no population specific mutations were found in NOP10 and NHP2. The statistical significance of these mutations is difficult to establish as the sample size was too low. None of the patients with TERT mutations had a response to immunosuppressive therapy.

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