Oshima K, Harano T, Harano K
Department of Health Control in Internal Medicine, Nagoya Ekisaikai Hospital, Nagoya City, Japan.
Am J Hematol. 1996 May;52(1):39-41. doi: 10.1002/(SICI)1096-8652(199605)52:1<39::AID-AJH6>3.0.CO;2-7.
During a physical checkup, a 42-year-old Japanese man with liver dysfunction was diagnosed as having beta-thalassemia. Using molecular biological techniques including PCR, we investigated the chemical basis of the hematological disorder. We found that a frameshift attributable to the insertion of a thymidine into or following the TTT sequence of codon 42 transformed codon 43 (GAG) into a stop codon (TGA). We believe that this mutation has not been previously reported.
在一次体检中，一名患有肝功能障碍的42岁日本男子被诊断为患有β地中海贫血。我们使用包括聚合酶链反应（PCR）在内的分子生物学技术，研究了这种血液系统疾病的化学基础。我们发现，由于在密码子42的TTT序列中或之后插入了一个胸腺嘧啶核苷，导致移码突变，使密码子43（GAG）变成了终止密码子（TGA）。我们认为这种突变此前尚未有报道。
