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目的 :对EXT1及EXT2基因在单发性髁突骨软骨瘤中的突变情况进行检测。方法 :收集12例手术治疗患者的组织标本,提取基因组DNA,对包含5’UTR区、编码区、外显子-内含子交界区及3’UTR区的PCR产物进行直接测序分析,并将结果与国际数据库中的数据进行对比。结果:发现4个不同的EXT1基因的单核苷酸多态性(SNPs),其中3个位于内含子区,1个位于编码区,位于编码区的突变为同义突变。该4个多态性位点以前均已报道。3个EXT2基因的SNPs,1个位于编码区,1个位于5’UTR区,1个位于内含子区。编码区突变为同义突变,内含子区突变以前未见报道。结论:EXT1及EXT2基因突变与单发性髁突骨软骨瘤的相关性可能不大,但其致病情况有待于进一步研究。
Objective: To detect the mutations of EXT1 and EXT2 gene in single condylar osteochondroma. Methods: Tissue samples from 12 surgically treated patients were collected and genomic DNA was extracted for direct sequencing analysis of PCR products containing 5 ’UTR region, coding region, exon-intron junction region and 3’ UTR region. The results are compared with the data from the international database. RESULTS: Single nucleotide polymorphisms (SNPs) were found in four different EXT1 genes, three of which were in the intron region and one in the coding region, with mutations in the coding region being synonymous mutations. The four polymorphic sites have been previously reported. Three EXT2 gene SNPs, one in the coding region, one in the 5’UTR region and one in the intron region. The coding region mutated to synonymous mutations, intron mutations have not been previously reported. Conclusion: The correlation between EXT1 and EXT2 gene mutations and single condylar osteochondroma may not be significant, but its pathogenicity remains to be further studied.