遗传性牙龈纤维瘤病中国家系中SOS1基因突变的研究  

SOS1 gene mutations in Chinese hereditary gingival fibromatosis families

作　　者：马艳艳[1] 黄志成[2] 江久汇[3] 胡颖[1] 

机构地区：[1]首都医科大学口腔医学院,北京100050 [2]吉林省肿瘤医院 [3]北京大学口腔医学院

出　　处：《北京口腔医学》2016年第4期186-190,共5页Beijing Journal of Stomatology

基　　金：国家自然科学基金(81570958);北京市卫生系统高层次人才学科骨干(2013-3-036)

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。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. 3248-3249insc 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.

关 键 词：牙龈增生 致病基因 遗传异质性 

分 类 号：R781.4[医药卫生—口腔医学]