遗传性牙龈纤维瘤病超微结构及基因定位研究

A study of the ultrastructure and gene location of hereditary gingival fibromatosis

目的 研究遗传性牙龈纤维瘤病的超微结构特征及染色体基因突变的位点。方法 对1例遗传性牙龈纤维瘤病谱系进行分析 ;用光镜、透射电镜观察病变龈组织 ;用微卫星DNA标记诊断遗传病的方法标记基因位点。结果 ①此例遗传性牙龈纤维瘤病是常染色体显性遗传性疾病 ;②病变牙龈组织有大量的致密纤维结缔组织 ,其中可见上皮样细胞、平滑肌细胞、成纤维细胞和纤维母细胞等 ,细胞分化成熟 ,但排列紊乱 ;③微卫星定位标记 ,疾病基因定位于染色体 5q13 q2 2。结论 遗传性牙龈纤维瘤病可能并非仅由单一的纤维细胞成分构成 ,本例遗传性牙龈纤维瘤病的牙龈组织有类似于“错构瘤”样病理改变 ;

Objective To ascertain histology changes of hereditary gingival fibromatosis(HGF) and the location of HGF gene. Methods A pedigree analyses of HGF; and the ultrastructure of gingival overgrowth tissue was observed with electron microscopy. The overgrowth of the HGF gene was defined with microsatellite markers. Results The connective tissue of HGF consisted of coarse collagen bundles and several kinds of cells arranged abnormally, such as: epithelial cells, smooth muscle cells and so on; the HGF locus had been mapped to chromosome 5q13 q22. Conclusions The gingival pathologic changes resemble 'hamartoma'; the findings has implications for identification of the underlying genetic basis of HGF.