遗传性牙龈纤维瘤病的临床特点及致病基因检测

Clinical characteristics and pathogenic gene detection of hereditary gingival fibromatosis

目的检测分析遗传性牙龈纤维瘤病(hereditary gingival fibromatosis,HGF)患者的临床特点及致病基因。方法收集HGF家系1个,采用先证者查证法对其家庭成员进行全身健康状况及口腔专科检查。收集患者及健康牙龈组织作HE和Masson染色进行组织学检查。抽取患者及正常家族成员的静脉血,提取基因组DNA,PCR扩增SOS1基因并测序,同源性比较分析(basic local alignment search tool,BLAST)。结果患者牙龈组织HE染色显示典型牙龈纤维瘤病的组织病理表现,Masson染色显示胶原纤维较正常人丰富。SOS1基因突变检测未发现突变点。结论 HGF具有高度遗传异质性,目前被成功克隆与鉴定的致病基因SOS1不是唯一的致病基因。

Objective To analysis the clinical characteristics and disease genes of hereditary gingival fibroma （HGF） patients. Methods The proband and her parents were investigated in the present study. The gingival tissue from the pa- tients was collected to perform HE and Masson staining for the histopathological observation. Genomic DNA was extracted from whole blood, and the SOS1 （ son of sevenless one） gene was amplified by PCR from genomic DNA. DNA sequences was analyzed by using BLAST （ basic local ＂alignment sem＇ch tool）. Results Gingival tissue in patients with HE staining showed typical gingival fibromatosis lesions, Masson staining showed its collagen fiber was rich in normal people. No mu- tations found SOS1 gene mutation detection. Conclusion HGF is proposed to be one of the genetic disease, with a high degree of genetic heterogeneity, SOSI gene,which is identified and successfully cloned as one of candidate HGF patho- genic gene, is not the sole pathogenic genes.