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目的检测分析遗传性牙龈纤维瘤病(HGF)一家系患者的临床特点及致病基因。方法通过诊断HGF先证者,收集一个中国汉族非综合征性HGF家系,患者牙龈组织作HE和MASSON染色进行组织病理学分析。采集家族中患者及健康个体的外周血,提取基因组DNA,PCR扩增SOS1基因各外显子并作直接测序,同源性比较分析。结果该中国汉族HGF家系中共有四代10人,其中患者4人(男2人,女2人),符合常染色体显性遗传模式。患者牙龈组织病理显示牙龈黏膜上皮钉突延长,纤维结缔组织增生,MASSON染色显示胶原纤维异常增生。基因突变检测未在SOS1基因外显子区域发现突变点。结论该家系临床特征典型,符合常染色体显性遗传模式。HGF具有一定的遗传异质性,SOS1基因可能不是该中国汉族人HGF家系的致病基因。
Objective To detect and analyze the clinical features and pathogenic genes of a family of patients with hereditary gingival fibromatosis (HGF). Methods HGF probands were collected to collect a Chinese Han non-syndromic HGF pedigree. The gingival tissues of the patients were stained with HE and MASSON for histopathological analysis. Peripheral blood from patients and healthy individuals was collected and genomic DNA was extracted. All exons of SOS1 gene were amplified by PCR and sequenced directly. The homology was analyzed. Results There were four generations of HGF pedigrees in Han Chinese, including 4 patients (2 males and 2 females), which were consistent with autosomal dominant inheritance pattern. Gingival pathology in patients with gingival mucosa epithelial nail extension, fibrous connective tissue proliferation, MASSON staining showed abnormal proliferation of collagen fibers. Mutations detected in the SOS1 gene exon region found no mutation. Conclusion The clinical features of this pedigree are typical and consistent with autosomal dominant inheritance pattern. HGF has some genetic heterogeneity, and SOS1 gene may not be the causative gene of HGF pedigrees in Han Chinese.