[人嗜酸细胞瘤线粒体DNA D环区突变分析及其意义]
[Analysis of mitochondrial DNA D-loop region mutation and its significance in human oncocytoma].
作者信息
Song Wen-jing, Yan Li-min, Zhao Xiu-lan, Liu Zeng-hui, Sun Bao-cun
机构信息
Department of Pathology, Tianjin Medical University, Tianjin 300070, China.
出版信息
Zhonghua Zhong Liu Za Zhi. 2010 Oct;32(10):767-70.
OBJECTIVE
To investigate the mutation in mitochondrial DNA displacement-loop (mtDNA D-loop) region in oncocytoma and its relationship with tumorigenesis and tumor development.
METHODS
The mtDNA D-Loop region of 20 thyroid or renal oncocytomas and the adjacent normal tissues were amplified by PCR, and then sequenced. Five human fetal renal tissues were collected as matched controls.
RESULTS
Among the 20 oncocytomas, 21 mutations which focused on hypervariable region I (HVI) were found in 7 tumor tissues and 1 normal tissue with the mutation rates of 35% and 5%, respectively. At the same time, 191 polymorphisms were found in the 20 cases.
CONCLUSION
mtDNA D-loop region, especially HV I, is the mutational hotspot of oncocytomas, which may be closely related with mtDNA duplicating rate and the function of mitochondria.
目的
研究嗜酸细胞瘤线粒体DNA位移环（mtDNA D环）区域的突变及其与肿瘤发生和发展的关系。
方法
采用聚合酶链反应（PCR）扩增20例甲状腺或肾嗜酸细胞瘤及其癌旁正常组织的mtDNA D环区域，然后进行测序。收集5例人胎儿肾组织作为对照。
结果
20例嗜酸细胞瘤中，7例肿瘤组织和1例正常组织共发现21个集中于高变区I（HVI）的突变，突变率分别为35%和5%。同时，20例中发现191个多态性位点。
结论
mtDNA D环区域，尤其是HVI，是嗜酸细胞瘤的突变热点，这可能与mtDNA复制率和线粒体功能密切相关。
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