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强直性肌营养不良患者喉癌中的CTG三联体重复扩增

CTG triplet repeat expansion in a laryngeal carcinoma from a patient with myotonic dystrophy.

作者信息

Osanai R, Kinoshita M, Hirose K, Homma T, Kawabata I

机构信息

Department of Otolaryngology, Saitama Medical Center, Saitama Medical School, 1981 Kamoda-Tsujido, Kawagoe, Saitama 350-8550, Japan.

出版信息

Muscle Nerve. 2000 May;23(5):804-6. doi: 10.1002/(sici)1097-4598(200005)23:5<804::aid-mus19>3.0.co;2-e.

DOI:10.1002/(sici)1097-4598(200005)23:5<804::aid-mus19>3.0.co;2-e
PMID:10797405
Abstract

A 66-year-old Japanese man with myotonic dystrophy (DM) underwent total laryngectomy for laryngeal carcinoma. The size of the expanded DNA fragment (EF) from the leukocytes and normal laryngeal tissues of this patient was only slightly longer than that in normal subjects. EF, however, was markedly longer in the laryngeal carcinoma. These findings support the hypothesis that elongation of the CTG repeat in the DM kinase gene occurs during acquired cell proliferation.

摘要

一名66岁的患有强直性肌营养不良(DM)的日本男性因喉癌接受了全喉切除术。该患者白细胞和正常喉组织中扩增的DNA片段(EF)大小仅比正常受试者略长。然而,喉癌中的EF明显更长。这些发现支持了这样一种假说,即DM激酶基因中CTG重复序列的延长发生在获得性细胞增殖过程中。

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