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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 ;染色体基因定位是确认遗传性牙龈纤维瘤病的遗传学基础
Objective To study the ultrastructural features and chromosomal gene mutation of hereditary gingival fibromatosis. Methods One case of inherited gingival fibromatosis was analyzed. The pathological gingival tissues were observed with light microscope and transmission electron microscopy. The genetic markers were identified by using microsatellite DNA markers to diagnose genetic diseases. Results ① This case of inherited gingival fibromatosis is an autosomal dominant genetic disease; ② There are a large number of dense fibrous connective tissue in the gingival lesion, including epithelioid cells, smooth muscle cells, fibroblasts and fibroblasts, etc., cells Differentiation and maturation, but arranged in disorder; ③ microsatellite markers, disease genes located on chromosome 5q13 q2 2. Conclusions Hereditary gingival fibromatosis may not be composed of single fibroblast components. The gingival tissue in this case has genetic pathology similar to that of “hamartoma”. Chromosome gene mapping is to confirm the genetic gingival fiber The genetic basis of oncology