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目的 :拟对线粒体基因D环区的一个特异和高度多态性的D3 10多聚C区域的变异情况进行评估。方法 :对 14 9例肿瘤组织和匹配的正常组织的线粒体基因D环区进行PCR扩增 ,并同时进行时相温度梯度凝胶电泳扫描和D3 10区域的序列测定。结果 :43个 (2 8 86% )肿瘤具有D3 10单核苷酸重复区的体细胞性插入或缺失突变 ,其中绝大部分为 1 2bp插入或缺失 ,与以前报道的该区域多态性变化一致。约 3 4 9%肿瘤组织中的突变为同质状态 ,65 1%处于异质状态。结论 :线粒体基因D3 10单核苷酸重复区变异在人类肿瘤组织中是一个常见的现象。
OBJECTIVE: To evaluate the variation of a specific and highly polymorphic D3 10 poly C region in mitochondrial D loop region. Methods: The mitochondrial D loop region of 14 9 tumor tissues and matched normal tissues was amplified by PCR, and the temperature gradient gel electrophoresis scanning and sequence determination of D3 10 were carried out simultaneously. Results: 43 (286%) of the tumors had somaclonal insertions or deletions of D3 10 single nucleotide repeat region, most of which were 1 2bp insertions or deletions. Compared with the previously reported polymorphism in this region Consistent. About 34.9% of the mutations in the tumor tissue were homogenous and 65 1% were in a heterogeneous state. CONCLUSIONS: The variation of D3 10 single nucleotide repeat of mitochondrial gene is a common phenomenon in human tumor tissues.