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目的:分析散发性嗜铬细胞瘤患者线粒体琥珀酸脱氢酶5(succinate dehydrogenase5,SDH5)基因2号外显子突变特点,探讨SDH5基因2号外显子突变与散发性嗜铬细胞瘤的关系。方法:提取12例散发性嗜铬细胞瘤患者的肿瘤标本DNA,应用聚合酶链反应(PCR)扩增SDH5基因2号外显子并测序,用Blast判读基因突变情况。结果:12例散发性嗜铬细胞瘤患者肿瘤标本SDH5基因2号外显子全部成功扩增,1例(8.3%)出现无意义突变。结论:SDH5基因2号外显子突变可能与散发性嗜铬细胞瘤存在密切关系,有必要加大样本量或对SDH5其他外显子突变情况作进一步研究。
Objective: To analyze the mutation of exon 2 of succinate dehydrogenase 5 (SDH5) gene in patients with sporadic pheochromocytoma and to explore the relationship between exon 2 mutation of SDH5 gene and sporadic pheochromocytoma. Methods: Tumor DNA was extracted from 12 patients with sporadic pheochromocytoma. The exon 2 of SDH5 gene was amplified by polymerase chain reaction (PCR) and sequenced. The mutation was analyzed by Blast. Results: Exon 2 of SDH5 gene was successfully amplified in all the 12 cases of sporadic pheochromocytoma. No mutation was found in 1 case (8.3%). CONCLUSIONS: The exon 2 mutation of SDH5 gene may be closely related to sporadic pheochromocytoma. It is necessary to increase the sample size or further investigate the mutations of other exons of SDH5 gene.