【摘要】 目的筛查中国遗传性牙龈纤维瘤病(hereditary gingival fibromatosis,HGF)家系中SOS1基因,为寻找HGF致病基因突变提供线索。方法收集到两个中国非综合征性HGF家系,患者表现出典型而且一致的临床表型。采取受试对象的外周血,提取基因组DNA。针对SOS1基因的23个外显子序列设计引物,PCR扩增纯化后进行Sanger测序。结果两个中国HGF家系的患者均未携带已知SOS1基因的插入突变(c.3248-3249ins C),在SOS1基因的外显子区,以及外显子与内含子交接的剪接区,均未发现其他的突变位点。结论 SOS1基因不是HGF中国家系的致病基因,中国HGF具有不同的遗传背景,存在其他潜在的致病基因和突变。应该利用全外显子组测序等方法,在中国HGF家系中寻找新的致病基因。更多还原

【Abstract】 Objective To confirm the association between SOS1 gene and non-syndromic hereditary gingival fibromatosis( HGF) in Chinese population. Methods Peripheral blood samples were collected from two Chinese families with non-syndromic HGF including three affected and four unaffected individuals. Genomic DNA was extracted and all exons in SOS1 gene were sequenced. Results Neither c. 3248-3249 ins C mutation nor other novel mutations in SOS1 gene were found in these families. Conclusion The study suggests that the SOS1 may not be the pathogenic gene in Chinese HGF pedigrees.更多还原