遗传性牙龈纤维瘤病研究进展

遗传性牙龈纤维瘤病是一种罕见的以全口牙龈弥漫性纤维增生为特征的良性病变,其临床表型、组织学特点、遗传方式均有明显异质性。目前人们利用分子遗传学手段已发现至少2个致病基因位点,其中一个基因已被克隆。本文现就该领域的这些最新进展进行综述。     

遗传性牙龈纤维瘤病的临床特点及致病基因检测

目的检测分析遗传性牙龈纤维瘤病（hereditary gingval 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SOSI基因并测序,同源性比较分析（basiclocalalignmentsearchtool,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。SOSl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SOSl不是唯一的致病基因。     

遗传性牙龈纤维瘤病研究进展

遗传性牙龈纤维瘤病是一种罕见的以全口牙龈弥漫性纤维增生为特征的良性病变，其临床表型、组织学特点、遗传方式均有明显异质性。日前人们利用分子遗传学手段巳发现至少2个致病基因位点，其中一个基因巳被克隆。本文现就该领域的这些最新进展进行综述。     

遗传性牙龈纤维瘤病致病基因机制研究进展

非综合征型遗传性牙龈纤维瘤病具有显著的遗传异质性,其致病基因及致病机制目前尚不明确;综合征型遗传性牙龈纤维瘤病,尽管大部分致病基因已知,但缺乏系统性整理及分析.本文对二者的致病基因及致病机制进行综述.     

遗传性牙龈纤维瘤病发病机制的研究

摘要近年来国内外对遗传性牙龈纤维瘤病的病因及发病机制的研究取得了很大突破,本文主要从细胞外基质的异常积累、基因突变及性激素和表皮生长因子的作用几个方面对遗传性牙龈纤维瘤病的发病机制作一综述。     

遗传性牙龈纤维瘤病致病基因的排除性定位

目的:对我国现有的2例家族遗传性牙龈纤维瘤病进行国外已证实的已知基因突变位点--SOS1基因21号外显子的排除性定位。方法:采用PCR—SSCP-银染的方法对2例遗传性牙龈纤维瘤病家系的致病基因进行排除性定位。结果:两家系中均未发现SOS1基因的缺失。5％的聚丙烯酰胺凝胶电泳结果表明两家系中无典型临床表现者电泳条带无明显的异常，而有典型临床表现者发现家系1有4例患者的电泳条带有明显位移，条带离加样孔较正常对照近，家系2有2例患者的电泳条带有明显位移，但条带离加样孔较正常对照远。结论：两家系无典型临床表现者无SOS1基因的突变，有典型临床表现者存在有SOS1基因21号外显子的突变，但是，是否所有有典型临床症状的患者其基因突变的位置及涉及的碱基片段都相同还需进一步研究。     

遗传性牙龈纤维瘤病一家族三代1例

遗传性牙龈纤维瘤病是一种罕见的家族遗传性疾病,以牙龈组织缓慢、渐进性增生为主要特征。本文对1例遗传性牙龈纤维瘤病家族进行报道及文献回顾。     

遗传性牙龈纤维瘤病1例

遗传性牙龈纤维瘤病是一种罕见的以牙龈组织缓慢、渐进性增生为主要特征的良性病变。本文对1例遗传性牙龈纤维瘤病的临床检查、病史进行报道,并结合文献对其进行讨论。     

遗传性牙龈纤维瘤病1例报告

遗传性牙龈纤维瘤病又名家族性或特发性牙龈纤维瘤病 ,临床较为少见 ,现将我科收治的 1例病例报告如下。　　患者女 ,17岁 ,哈尼族 ,高寒山区农民 ,因上颌前牙未萌出及其余牙牙龈增生影响美观来院就诊。患者 3岁左右即被发现牙龈丰满 ,乳恒牙替换后上颌前牙未萌出 ,其它牙牙龈增生肥大随年龄增长渐重 ,现牙齿大部分被牙龈覆盖 ,质地较硬 ,不易出血 ,基本上不影响咀嚼 ,未曾诊治。家族中无类似疾病患者。检查 :一般情况可 ,发育中等 ,智力一般 ,全身皮肤未见多毛。专科情况 :口腔卫生尚可 ,32 1|12未萌 ,龈下可见牙冠形态突起 ,其它牙牙冠仅…     

遗传性牙龈纤维瘤病发病机制的研究

近年来国内外对遗传性牙龈纤维瘤病的病因及发病机制的研究取得了很大突破，本文主要从细胞外基质的异常积累、基因突变及性激素和表皮生长因子的作用几个方面对遗传性牙龈纤维瘤病的发病机制作一综述。     

遗传性牙龈纤维瘤病中国家系中SOS1基因突变的研究

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.3248-3249insC),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.     

遗传性牙龈纤维瘤病的临床研究

目的探讨遗传性牙龈纤维瘤病(hereditary gingival fibromatosis,HGF)的临床特征。方法回顾分析我院2001-2007年收治的3例HGF病例,对其遗传特点及相关的综合征,临床表现,X线片特征,组织病理,诊断分型及治疗预后进行分析。结果3例HGF患者1例为综合征型HGF,2例为非综合征型HGF,其遗传特性、发病年龄、临床表征各有所不同,但均具有典型全口牙龈增生及牙槽骨吸收。结论3例HGF不同个体表现不尽相同,具有一定的异质性。     

Nonsyndromic hereditary gingival fibromatosis: Characterization of a family and review of genetic etiology

Our aim is to describe a family with a nonsyndromic form of hereditary gingival fibromatosis (HGF) and discuss genetic characteristics of this rare disease by reviewing reported cases. A mother and three descendants were diagnosed with HGF. There was marked variable expressivity: from severe generalized gingival overgrowth in a 16-year-old boy (the proband) to minimal manifestations in the mother. The proband was submitted to gingivectomy and gingivoplasty. In younger siblings, the disease remained stable for 5 years, suggesting that clinical surveillance is a good option. The diagnosis was supported by histopathological examination. Analysis of this family and literature-reported cases supports that HGF most frequently shows an autosomal dominant inheritance with high penetrance and variable expressivity. Neomutations and gonadal mosaicism do not seem to be a rare event. Although five loci have been mapped by linkage analysis, only two genes, SOS1 and REST, were identified in four families.     

A clinical review of drug-induced gingival overgrowths

There is an increasing number of medications associated with gingival overgrowth. These medications are used to treat a number of common conditions in the Australian population and as such dentists can expect to manage a number of patients with medication-related gingival overgrowth. This review highlights the clinical features and management of the common overgrowths associated with anticonvulsants, immunosuppressants and the calcium channel blockers.     

Phenytoin-induced gingival overgrowth: A case report

Drug-induced gingival enlargement manifests as an abnormal growth of the gingiva due to an adverse drug reaction in patients treated with anticonvulsants, immunosuppressants and calcium channel blockers. The enlargement affects the normal oral hygiene practice and may even interfere with masticatory functions. It may gradually becomes a source of pain and could lead to disfigurement and cosmetic problem, interfere with mastication and speech, impede effective tooth cleaning or force the teeth out of alignment.It is a serious concern for both the patient and the clinician due to unaesthetic appearance and formation of new niches for Periodonto-pathogenic bacteria. Among the anticonvulsants, Phenytoin has most frequently been described to be associated with Gingival Enlargement. This case report presents gingival hyperplasia as a side effect of Phenytoin use in a 17-year-old female patient on this drug for the last 1 year.     

Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients

ObjectiveGingival overgrowth is a side effect associated with some distinct classes of drugs, such as anticonvulsants, immunosuppressants, and calcium channel blockers. One of the main drugs associated with gingival overgrowth is the antiepileptic phenytoin, which affects gingival tissues by altering extracellular matrix metabolism. It has been shown that mutation of human SOS1 gene is responsible for a rare hereditary gingival fibromatosis type 1, a benign gingival overgrowth. The aim of the present study is to evaluate the possible contribution of SOS1 mutation to gingival overgrowth-related phenotype.DesignWe selected and screened for mutations a group of 24 epileptic patients who experienced significant gingival overgrowth following phenytoin therapy. Mutation scanning was carried out by denaturing high-performance liquid chromatography analysis of the entire coding region of the SOS1 gene. Novel identified variants were analyzed in-silico by using Alamut Visual mutation interpretation software, and comparison with normal control group was done.ResultsMutation scanning of the entire coding sequence of SOS1 gene identified seven intronic variants and one new exonic substitution (c.138G > A). The seven common intronic variants were not considered to be of pathogenic importance. The exonic substitution c.138G > A was found to be absent in 100 ethnically matched normal control chromosomes, but was not expected to have functional significance based on prediction bioinformatics tools.ConclusionsThis study represents the first mutation analysis of the SOS1 gene in phenytoin-induced gingival overgrowth epileptic patients. Present results suggest that obvious pathogenic mutations in the SOS1 gene do not represent a common mechanism underlying phenytoin-induced gingival overgrowth in epileptic patients; other mechanisms are likely to be involved in the pathogenesis of this drug-induced phenotype.     

环孢素A引发牙龈过度生长过程中IL-6的表达

目的:对体外培养的牙龈上皮细胞和成纤维细胞施加环孢素A(cyclosporin,CsA)刺激,应用免疫组化方法探讨CsA引发药物性牙龈过度生长(gingival overgrowth,GO)的病理机制。方法:对体外培养的牙龈上皮细胞和成纤维细胞分别施加浓度为600、800和1000ng/mL,作用时间为48、72h的CsA刺激。在观察细胞生长曲线及其变化的基础上,通过对细胞铺片的免疫酶染色(ABC法)定量分析和对细胞培养液的酶联免疫吸附检测(ELISA法),分别对牙龈组织细胞IL-6的表达和分泌进行测定,应用SAS 6.0软件包对数据进行统计学分析。结果:牙龈上皮细胞接受CsA刺激后,细胞数量明显增加,与对照组相比具有显著差异(P<0.05)。在接受相同条件CsA刺激下,牙龈上皮细胞和成纤维细胞胞内IL-6表达无显著差异,细胞胞内IL-6表达量与CsA作用时间、浓度间相关。接受CsA刺激的最初24h内,牙龈成纤维细胞分泌IL-6的总量在各CsA浓度实验组及对照组间均无显著差异(P>0.05);牙龈成纤维细胞接受刺激超过24h后,CsA浓度为1000ng/mL的实验组与对照组间在细胞分泌IL-6总量上有显著增加...