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为了探讨不同肿瘤组织中线粒体基因体细胞性突变的胞质异质性和同质性状态,利用32对重叠引物对149例肿瘤组织和匹配正常组织的全线粒体基因进行PCR扩增,并同时进行时相温度梯度凝胶电泳扫描突变筛选,基因测序确定突变类型与异质状况。结果表明,不同肿瘤组织中线粒体基因体细胞性突变的异质率不同,口腔癌(65%)和食道癌(64%)具有较高的异质率,其次为乳腺癌(45 9%)。4种转换形式的发生频率以Hm→Hm>Hm→Ht>Ht→Hm>Ht→Ht为主。碱基转换的主要转换形式为Hm→Hm,碱基颠换则以Hm→Ht为主。认为胞质异质性是人类肿瘤组织线粒体基因突变的普遍现象。
In order to investigate the cytoplasmic heterogeneity and homogeneity of somatic mutations in different tumor tissues, 149 pairs of overlapping primers were used to amplify the full-length mitochondrial genes of 149 tumor tissues and matched normal tissues and simultaneously performed Mutation screening was performed by temperature gradient gel electrophoresis, and sequencing was performed to determine the type of mutation and heterogeneity. The results showed that the heterogeneity of mitochondrial somatic mutations in different tumor tissues was different. Oral cancer (65%) and esophageal cancer (64%) had higher heterogeneity, followed by breast cancer (45.9%). The occurrence frequency of the four kinds of conversion forms is Hm → Hm> Hm → Ht> Ht → Hm> Ht → Ht. Base conversion of the main conversion form Hm → Hm, base transposed Hm → Ht based. Cytoplasmic heterogeneity is thought to be a common phenomenon in mitochondrial DNA mutations in human tumor tissues.