Detection of EXT gene mutations in patients with sporadic osteochondroma of condyle

Abstract

Abstract: PURPOSE : To detect the EXT1 and EXT2 gene mutations in patients with sporadic condylar osteochondromas(OC). METHODS : Genomic DNA was extracted from samples of resected masses of 12 sporadic condylar OC patients. PCR products spanning the coding regions, intron-exon boundaries, 5’and 3’UTR of the genes were sequenced. Variations identified in the sequences were compared with those retrieved from the databases. RESULTS : Four genetic variations of EXT1 were identified, of which 1 was synonymous coding variations, 3 in intronic region. Four variations had been reported before.Three variations of EXT2 were detected, 1 was synonymous coding variations, 1 in intronic region and 1 in 5’UTR. The genetic variations in intronic region of EXT2 were novel. CONCLUSIONS : EXT gene maybe not virulence gene for condylar OC, but further study is required for knowing EXT gene mutation in patients with sporadic condylar OC.

Key words: Condylar osteochondroma, EXT1, EXT2, Mutation

CLC Number:

R739.8

ZHOU Qin, CHEN Min-jie, YANG Chi.. Detection of EXT gene mutations in patients with sporadic osteochondroma of condyle[J]. China Journal of Oral and Maxillofacial Surgery, 2015, 13(6): 521-524.

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