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目的:探讨人线粒体琥珀酸脱氢酶(SDH)基因B亚单位(SDHB)基因突变与散发性副神经节瘤之间的关系。方法:取8例散发性副神经节瘤患者的肿瘤石蜡标本,提取基因组DNA,对SDHB基因的8个外显子进行PCR扩增和测序分析,与Genebank中人类SDHB基因序列及SNP数据库比对,寻找突变位点。结果:8例肿瘤组织标本中,在64个外显子中发现8例9个核苷酸改变。其中1例1个核苷酸改变为基因点突变,突变率为12.5%,为第2外显子第64位碱基C突变为T(c.136C>T),导致第2外显子编码的第22位密码子由精氨酸密码子突变为终止子(p.Arg46X)。另外8例8个为单核苷酸多态性改变。结论:散发性副神经节瘤患者中存在SDHB基因突变,可能与副神经节瘤的发生有关。
Objective: To investigate the relationship between human mitochondrial succinate dehydrogenase (SDHB) gene B subunit (SDHB) gene mutation and sporadic paraganglioma. Methods: Tumor paraffin specimens from 8 patients with sporadic paraganglioma were collected and genomic DNA was extracted. Eight exons of SDHB gene were amplified by PCR and sequenced. Compared with the human SDHB gene sequence and SNP database in Genebank Look for mutation sites. Results: 8 of 8 exons in 8 samples of tumor tissue were found to be altered by 9 nucleotides. One case of 1 nucleotide changed to a point mutation, the mutation rate was 12.5%, the second exon 64 base C mutation to T (c.136C> T), leading to the second exon coding Codon 22 from arginine codon to terminator (p.Arg46X). Another 8 cases of 8 single nucleotide polymorphisms. Conclusion: There are SDHB mutations in patients with sporadic paraganglioma, which may be related to the occurrence of paraganglioma.