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Updated: May 29, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[The mutations of germline succinate dehydrogrnase subunit B (SDHB) in sporadic paragangliomas]
Ting-jian Zu1, Mu-yun Jia, Rong-tao Yuan
1Department of Oral and Maxillofacial Surgery, Qingdao University Medical School, Qingdao, China. seanzoo958@126.com
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.
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