title: [The mutations of germline succinate dehydrogrnase subunit B (SDHB) in sporadic paragangliomas].
abstract: OBJECTIVE
  The purpose of this study was to investigate the somatic mutations of human mitochondria succinate dehydrogenase subunit B (SDHB) in sporadic paragangliomas.
  
  
  METHODS
  Eight exons of SDHB gene in 8 sporadic paragangliomas cases were amplified by PCR and sequenced, respectively. The sequences were analyzed to find mutations compared with human homology sequence in Genebank and SNP database.
  
  
  RESULTS
  Nine sequence variations were found in 8 cases, in which one mutation was found in one case (1/8, 12.5%). The mutation was identified as the sixty four base pair in exon 2 of SDHB(c.136C>T), resulting in a change from a arginine to a stop codon (p.Arg90X). The left 8 variations were polymorphisms.
  
  
  CONCLUSIONS
  The mutation of SDHB exists in sporadic paragangliomas patients and it might play a significant role in paragangliomas tumorigenesis.
authors: Department of Oral and Maxillofacial Surgery, Qingdao University Medical School, Qingdao, China. seanzoo958@126.com
authors: Ting-jian
authors: TJ
authors: Zu
authors: Mu-yun
authors: MY
authors: Jia
authors: Rong-tao
authors: RT
authors: Yuan
authors: Ling-xue
authors: LX
authors: Bu
authors: Ru-yong
authors: RY
authors: Yao
mesh_terms: D004252:DNA Mutational Analysis; D018095:Germ-Line Mutation; D006801:Humans; D009154:Mutation; D010235:Paraganglioma; D013385:Succinate Dehydrogenase; D013386:Succinates; D019802:Succinic Acid
chemical_list: D013386:Succinates; D019802:Succinic Acid; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase