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目的:检测散发性副神经节瘤(paraganglioma,PGL)患者中SDHD基因体细胞突变情况,为PGL分子遗传学的深入研究提供基础数据。方法:选取15例经病理确诊、并具有完整临床资料的副神经节瘤患者(其中9例为颈动脉体瘤患者,6例为肾上腺外副神经节瘤),利用PCR技术对石蜡包埋肿瘤组织中的SDHD基因各外显子进行扩增,纯化后直接测序,将测序结果与美国生物技术信息中心公布的标准序列比对。结果:15例副神经节瘤患者中均未发现SDHD基因外显子体细胞突变。结论:散发性副神经节瘤发病与SDHD基因体细胞突变无明显关系。
Objective: To detect the somatic mutation of SDHD gene in patients with sporadic paraganglioma (PGL), and to provide the basic data for the further study of PGL molecular genetics. Methods: Fifteen patients with paraganglioma diagnosed by pathology and having complete clinical data (9 patients with carotid body tumor and 6 patients with adrenal paraganglioma) were selected and paraffin-embedded tumor The exon of the SDHD gene in the tissue is amplified, sequenced directly after purification, and the sequencing result is compared with the standard sequence published by the American Biotechnology Information Center. Results: There was no somatic mutation of SDHD gene in 15 cases of paraganglioma. Conclusion: The incidence of sporadic paraganglioma has no significant relationship with the somatic mutation of SDHD gene.