[The mutations of germline succinate dehydrogrnase subunit B (SDHB) in sporadic paragangliomas].
Shanghai Kou Qiang Yi Xue
; 20(4): 413-6, 2011 Aug.
Article
em Zh
| MEDLINE
| ID: mdl-21909610
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Mutação em Linhagem Germinativa
/
Ácido Succínico
Limite:
Humans
Idioma:
Zh
Ano de publicação:
2011
Tipo de documento:
Article