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颈动脉体瘤与SDH基因突变的研究进展 被引量：3

Research advances in SDH gene mutation in carotid body tumor
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摘要 颈动脉体瘤(carotid body tumor,CBT)又称副神经节瘤,其存在线粒体SDH基因的突变,包括SDHD、SDHC及SDHB基因的突变。SDH基因突变多发生于家族性CBT中,散发性CBT中少见。对CBT与SDH基因突变的研究,将为CBT的发病机制、基因诊断、遗传咨询和治疗提供新的思路。 Carotid body tumor （CBT）, also referred to as paraganglioma, has mitoehondrial succinate dehydrogenase （SDH） gene mutation, including SDHD, SDHC and SDHB gene mutation. SDH gene mutation mainly occurred in familial CBT patients, seldom in sporadic cases. Researches in the relationship between CBT and SDH gene would provide a new approach for tumor genesis, gene diagnosis, genetic consulting and therapy of CBT.
作者 袁荣涛 郑家伟 李宁毅
机构地区 青岛大学医学院附属医院口腔颌面外科 上海交通大学医学院附属第九人民医院.口腔医学院口腔颌面外科
出处 《中国口腔颌面外科杂志》 CAS 2009年第3期281-283,共3页 China Journal of Oral and Maxillofacial Surgery
关键词 颈动脉体瘤 琥珀酸脱氢酶基因 基因突变 Carotid body tumor Succinate dehydrogenase gene Gene mutation
分类号 R739.91 [医药卫生—肿瘤]
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参考文献20

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  • 2Ogawa K, Shiga K, Saijo S, et al. A novel G106D alteration of the SDHD gene in a pedigree with familial paraganglioma [J]. Am J Med Genet A, 2006, 140(22):2441-2446.
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同被引文献25

  • 1郑曰宏,管珩,刘昌伟,李拥军,刘暴.颈动脉体瘤外科治疗并发症的分析[J].中国现代普通外科进展,2001,4(2):101-103. 被引量：20
  • 2Knight TT Jr, Gonzalez J A, Rary J M, et al. Current concepts for the surgical management of carotid body tumor[J]. Am J Surg, 2006, 191(1) :104-110.
  • 3Fakhry N, Niccoli-Sire P, Barlier-Seti A, et al. Cervical paragangliomas: is SDH genetic analysis systematically required? [ J ]. Eur Arch Otorhinolaryngol, 2008, 265 (5) :557-563.
  • 4Shamblin W R, ReMine W H, Sheps S G, et al. Carotid body tumor (chemodectoma). Clinicopathologic analysis of ninety cases[J]. Am J Surg, 1971, 122(6) :732-739.
  • 5Grotemeyer D, Loghmanieh SM, Pourhassan S, et al. Dignity ofcarotid body tumors. Review of the literature and clinicalexperiences[ J]. Chirurg,2009, 80 ( 9 ) : 854-863. doi: 10. 1007/s00104-009-1724-x.
  • 6da Gama AD, Cabral GM. Carotid body tumor presenting withcarotid sinus syndrome [ J ]. J Vase Surg, 2010, 52 ( 6 ) : 1668-1670. doi: 10.1016/j. jvs.2010.07.016.
  • 7Shamblin WR,ReMine WH, Sheps SO, et al. Carotid body tumor(chemodectoma). Clinicopathologic analysis of ninety cases [ J ].Am J Surg,1971,122(6) :732-739.
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  • 9Knight TT Jr,Gonzalez JA,Rary JM,et al. Current concepts for thesurgical management of carotid body tumor[ J]. Am J Surg,2006,191 (1) : 104-110. doi : http ://dx. doi. org/10. 1016/j. amjsurg.2005.10.010.
  • 10Badenhop RF, Jansen JC, Fagan PA, et al. The prevalence ofSDHB,SDHC,and SDHD mutations in patients with head andneck paraganglioma and association of mutations with clinicalfeatures[ J]. J Med Genet,2004,41 (7) : e99. doi: 10. 1136/jmg.2003.011551.

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中国口腔颌面外科杂志
2009年 第3期

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