喉鳞状细胞癌组织线粒体基因D-310区碱基的多态性

Polymorphism of mitochondrial DNA at the D-310 region in laryngeal squamous cancer cells

目的探讨喉鳞状细胞癌组织中线粒体基因D310区碱基序列多态性及其临床意义。方法提取11例喉鳞状细胞癌组织总DNA,利用聚合酶链反应(PCR)对线粒体基因包含D310区的D-LOOP区部分序列进行扩增,聚丙烯酰胺凝胶电泳并直接测序,观察该区碱基序列的改变。结果D310区多态性表现为多聚C保守片段胞嘧啶碱基数量的改变,发生率为8/11(72.73%)。5/8(62.50%)的标本突变是同质性的,3/8(37.50%)标本为异质性突变。共检测到6种不同的序列改变,以单个胞嘧啶的插入最常见,约占全部序列改变的50%。结论在喉鳞状细胞癌组织,D310区具有明显多态性,是突变的多发区域之一。

Objective To investigate the polymorphism of the D310 region of somatic mitochondrial DNA （mtDNA） in the human primary laryngeal squamous cell cancer. Methods Eleven cases of laryngeal squamous cell cancer were collected from in-patients who were confirmed by pathologic studies. The total DNA was amplified to identify the polymorphism of the D-310 region by the PCR technique, polyacrylamide gel electrophoresis and sequencing. Results Changes in length of short C base-repetitive sequencing were found in the conserved D310 region in 8 cases （72.73%）. Most of the mutations （8/11） were homoplnsmic mutations, and the others （3/11） were hytroplasmic mutations. Of the 6 kinds of mutation changes, insertion of one cytosine at the D-310 region was the most common, ranked about 50%. Conclusions The D310 region located in the D-Loop region could be a mutational hotspot in laryngeal squamous cell cancer.