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Shanghai Kou Qiang Yi Xue. 2011 Aug;20(4):413-6.

[The mutations of germline succinate dehydrogrnase subunit B (SDHB) in sporadic paragangliomas].

[Article in Chinese]

Author information

  • 1Department of Oral and Maxillofacial Surgery, Qingdao University Medical School, Qingdao, China. seanzoo958@126.com

Abstract

PURPOSE:

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.

PMID:
21909610
[PubMed - in process]
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