Jinnai K, Sugio T, Mitani M, Hashimoto K, Takahashi K
Department of Neurology, National Sanatorium Hyogo-Chuo Hospital, 1314, Ohara, Sanda 669-1592, Japan.
Muscle Nerve. 1999 Sep;22(9):1271-4. doi: 10.1002/(sici)1097-4598(199909)22:9<1271::aid-mus16>3.0.co;2-d.
Length of (CTG)n triplet repeats in myotonic dystrophy protein kinase gene (DMPK) was estimated in tumors, normal tissues of the same organs, muscles, and leukocytes from three myotonic dystrophy (DM) patients and a non-DM patient. Using cDNA 25 as a probe, a Southern blot analysis of EcoRI- and BglI-digested DNA from these tissues demonstrated the longest expansion of the repeats in the tumors of DM patients. In all tissues from a non-DM patient, the repeat length was confirmed to be stable by PCR analysis. Our data suggest that expanded (CTG)n repeat in tumor tissues may have increased the instability. This study emphasizes the importance of a long-term prospective study on the incidence of tumors in DM to clarify the pathological interrelation between the two entities.
在三名强直性肌营养不良（DM）患者和一名非DM患者的肿瘤、同一器官的正常组织、肌肉及白细胞中，对强直性肌营养不良蛋白激酶基因（DMPK）中（CTG）n三联体重复序列的长度进行了评估。以cDNA 25为探针，对这些组织经EcoRI和BglI酶切的DNA进行Southern印迹分析，结果显示DM患者肿瘤中重复序列的扩增最长。通过PCR分析证实，非DM患者所有组织中的重复序列长度是稳定的。我们的数据表明，肿瘤组织中扩增的（CTG）n重复序列可能增加了不稳定性。本研究强调了对DM患者肿瘤发病率进行长期前瞻性研究以阐明这两种疾病之间病理关联的重要性。
