PAX9基因与非综合征型多数牙先天缺失的关系及研究进展

先天性缺牙是人类牙列中最常见的发育异常,包括个别牙先天缺失,多数牙先天缺失和先天无牙症。多数牙先天缺失按照其表现型不同通常可分为综合征型和非综合征型,表现为常染色体的显性或隐性遗传、X-连锁遗传特性,有的具有家族遗传史,有的则是无家族史的散发病例。本文就近年来非综合征型牙齿发育不全研究中的热点基因PAX9的研究进展作一综述。     

先天性多数牙缺失家系1例

1临床资料患者男,7岁,因多数牙缺失要求修复治疗前来就诊。查体:体格发育较同龄人迟缓、偏瘦,皮肤偏黑,毛发及智力发育正常。口腔及颌面部检查:双侧面部对称,面下1/3缩短,张闭口运动正常。混合牙列,多数牙缺失,牙列稀疏,缺     

非综合征性唇腭裂与同源异型盒基因1多态性的相关性研究

目的采用聚合酶链反应- 单链构象多态性（PCR- SSCP）方法研究同源异型盒基因（MSX）1外显子1的编码区，探讨非综合征性唇腭裂（NSCL/P）患者MSX1基因外显子1的编码区内是否存在基因突变。方法采用聚合酶链反应（PCR）和单链构象多态性（SSCP）方法，以45名健康人为对照组，45名NSCL/P患者作为研究对象，分析MSX1基因多态性。结果SSCP分析显示NSCL/P患者（45名）与对照组（45名）样本的电泳速率相同，提示无多态性存在。结论MSX1基因外显子1未发现多态性的存在，其与NSCL/P患者之间无明显相关性。     

非综合症型多数恒牙先天性缺失的诊治分析

先天性缺牙是人类牙列中最常见的发育异常,目前研究显示其发生与遗传因素有关,是一种受环境影响的多基因遗传病。多数牙先天性缺失指不包括第三磨牙在内的6颗或6颗以上的牙齿缺失,按表型不同可分为非综合征型和综合征型。临床上对综合征型病例报道较多,非综合征型多数牙先天缺失却鲜见报道。本文对一例非综合症型18颗恒牙先天性缺失的诊治进行了分析探讨。     

肌节同源盒-1基因A448T多态性与山西部分人群非综合征性唇腭裂发病的相关性

目的 探讨肌节同源盒(msx)-1基因A448T的多态性与山西部分人群非综合征性唇腭裂(NSCL/P)发病间的关系.方法 以聚合酶链反应-限制性片段长度多态性方法行msx-1基因A448T的多态性检测,并行其遗传统计分析.结果 msx-1等位基因频率在对照组和NSCL/P组之间的差异有显著性统计学意义(P＜0.01),对照组T位点频率明显高于NSCL/P组(对照组0.55,NSCL/P组0.26).结论 msx-1/A448T(rs13127820)基因的多态性与山西部分人群NSCL/P发病可能相关,此位点的T等位基因在NSCL/P的发生中可能起保护效应.     

多数恒牙先天性缺失1例

患者男 ,12岁 ,因多个恒牙未萌来诊。检查 :16、2 6、36、4 6已萌 ,形态正常 ,5 1缺失 ,其余乳牙均尚滞留。乳前牙呈小圆锥形 ,排列稀疏。咬牙合关系无明显异常。口腔全景片示 :除 16、2 6、36、4 6已萌出外 ,未见其余恒牙牙胚 ,颌骨发育基本良好 ,密度无异常。患儿全身发育良好 ,皮肤毛发发育正常 ,智力正常。面型无明显畸形 ,未发现全身性器质性疾病。母代诉数年前曾因右侧上颌乳前牙过度松动而拔除。父母亲均健康 ,无类似疾病 ,无家庭遗传史。多数恒牙先天性缺失1例@佘东育$牙科医疗中心!广东深圳518001…     

HED伴多数牙先天缺失1例的临床研究

目的:对1例少汗型外胚叶发育不全综合征(hypohidrotic ectodermal dysplasia,HED)伴多数牙先天缺失的患儿及其孪生姐姐进行临床研究,探讨该病的临床特点和病因.方法:首先从常规口腔检查、全口曲面断层X线片和系谱分析等三个方面研究其临床特点.然后从染色体分析(常染色体数、性染色体数、核型、数目畸变率、结构畸变率等)、血清微量元素(铜、锌、铁、镁、钙)和血清碱性磷酸酶(ALP)检测等方面进行研究.结果:HED患儿先天缺失26颗牙齿,其中包括12颗前牙、8颗前磨牙和6颗磨牙.患儿和其孪生姐姐的染色体分析未见数目畸变和结构畸变;血清微量元素铜、锌、铁、镁、钙均在正常参考值之内;血清碱性磷酸酶(ALP)患儿为250μmol/L(正常参考范围为35～130 μmol/L),其值稍偏高;其孪生姐姐的ALP为92μmol/L,在正常参考范围之内.结论:该患儿HED伴多数牙先天缺失的发病原因不是由于染色体出现异常或微量元素缺少所致,可能与ALP浓度过高相关.     

姊妹俩多数牙先天性缺失

~~姊妹俩多数牙先天性缺失@龚晓红$四川宣汉县人民医院口腔科!636150 @蒋波$四川宣汉县人民医院口腔科!636150     

累及乳牙列的单纯性多数牙先天缺失1例

报道1例累及乳牙列的单纯性多数牙先天缺失,且个别牙非左右对称缺失,并有遗传倾向的病例。     

同源异型盒基因Msx—1在小鼠牙齿发育生物矿化过程中的表达研究

目的：研究同源异型盒基因Msx-1在牙齿硬组织形成过程中的表达和意义。方法：采用原位杂交技术检测Msx-1mRNA在出生后1天、7天和14天昆明小鼠磨牙和切牙牙轴质和牙本质形成 的表达。结果：磨牙中,Msx-1mRNA主要表达于生后1天到7天正在极化的前成轴细胞和前成牙本质细胞,处于分泌期的成釉细胞和成牙本质细胞,7天时信号最强;随后其表达随细胞分化的成熟和牙釉质、牙本质基质形成的进展而逐渐下降。切牙中,牙冠部细胞中的表达与磨牙基本相似;但根部分唇则未分化的颈环上皮和外胚间充质细胞始终呈Msx-1阳性表达,结论同源异型盒基因Msx-1转录主要发生于硬组织形成早期阶段,即成釉细胞和成牙本质细胞的极化和分泌阶段,提示Msx-1可能与了小鼠牙胚硬组织形成过程中细胞分化和生物矿化。     

A novel WNT10A mutation causes non-syndromic hypodontia in an Egyptian family

Objective

Tooth agenesis is the most common dental anomaly, whose aetiology still remains to be fully elucidated. The aim of this study was to investigate the genetic cause of non-syndromic hypodontia with clinical variability in an Egyptian family.

Design

The entire coding regions including exon-intron boundaries of the MSX1, PAX9 and WNT10A genes were investigated by direct sequencing in all affected family members.

Results

Novel heterozygous mutation inherited in an autosomal dominant manner was identified in the WNT10A gene. This 21-bp deletion combined with 1-bp insertion, c.-14_7delinsC, eliminates the translation initiation codon leading to either no protein production or translation of alternative open reading frames. None of the control subjects (400 chromosomes) were carriers of this novel WNT10A mutation. No pathogenic mutations were found in the MSX1 and PAX9 genes.

Conclusions

The novel c.-14_7delinsC mutation might be the etiological variant of the WNT10A gene responsible for the permanent tooth agenesis in the Egyptian family. WNT10A is a major candidate gene for non-syndromic hypodontia.     

小泛素化修饰基因-1多态性与非综合征型唇腭裂的相关性研究

目的探讨小泛素化修饰基因-1（SUMO-1）rs6709162、rs7599810和rs7580433位点单核苷酸多态性与非综合征型唇腭裂（NSOC）的相关性。方法收集宁夏地区NSOC患者208例、患者父亲189例、患者母亲176例、完整核心家系（患者及其父母）172个进行研究,并收集正常新生儿284例作为对照。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测SUMO-1基因多态位点rs6709162、rs7599810和rs7580433基因型,并进行病例对照分析、传递不平衡检验（TDT）和以家系为基础的相关性检验（FBAT）。结果病例对照研究发现：SUMO-1基因rs7599810位点的TT基因型频率在唇裂、腭裂组与对照组比较有统计学差异（P=0.01,P=0.01）。TDT分析结果：rs7599810位点的T等位基因在唇腭裂组中存在过传递（P=0.00）;rs6709162位点的C等位基因在腭裂和唇腭裂组中存在过传递（P=0.00,P=0.01）;rs7580433位点的G等位基因在唇裂组中存在过传递（P=0.05）。FBAT分析结果：rs7599810位点TT基因型和T等位基因的分布具有统计学意义（P=0.00,P=0.00）。结论SUMO-1基因多态性与NSOC存在相关性。     

星形细胞上调基因1在唾液腺肿瘤中的表达和意义

目的: 探讨星形细胞上调基因1(astrocyte elevated gene-1,AEG-1)在唾液腺肿瘤中的表达和意义。方法：免疫组化检测唾液腺良性肿瘤(多形性腺瘤)、恶性肿瘤(黏液表皮样癌和腺样囊性癌)组织中AEG-1的表达,探讨AEG-1的表达与唾液腺肿瘤临床病理特征的相关性。选取同期15例非肿瘤手术切除的正常唾液腺组织作为对照。采用SPSS10.0软件包对数据进行统计学分析。结果：肿瘤组织中AEG-1阳性率显著高于正常唾液腺组织(P=0.001),恶性肿瘤组AEG-1的阳性率显著高于良性肿瘤组织(P=0.033),晚期恶性肿瘤(T3+T4)AEG-1阳性率显著高于早期肿瘤(T1+T2)(P=0.035)。结论：AEG-1可能在唾液腺肿瘤的发生和恶变过程中起着一定作用。     

非综合征性唇腭裂与MSX1基因传递不平衡研究

目的探讨MSX1基因与湖南汉族人群非综合征性唇腭裂（nonsyndromic cleft lip and palate，NSCLP）遗传易感性的关系。方法以MSX1基因内含子区的CA重复微卫星作为遗传标记，采用聚合酶链式反应（polymerase chain reaction，PCR）-变性聚丙烯酰胺凝胶（polyacrylamide gel electrophoresis，PAGE）基因分型技术对湖南汉族129个NSCLP核心家系387名成员进行基因型分析，并行传递不平衡检验（transmission disequilibrium test，TDT）及Logistic回归分析。结果TDT分析显示，MSX1基因CA4等位基因在唇裂伴（不伴）腭裂（cleft lip with or without palate，CL／P）和单纯性腭裂（cleft palate only，CPO）组均被优势传递给患病后代（P=0．018，P=0．041）。Logistic回归分析结果支持隐性遗传模式，CA4本身或其作为一致病基因的遗传标志以隐性遗传模式被遗传（P=0．009）。结论MSX1基因与湖南汉族人群NSCLP相关联，可能是其易感基因或与之存在连锁不平衡。     

Clinical features of hypodontia and associated dental anomalies: a retrospective study

OBJECTIVE: Hypodontia is the most commonly known developmental dental anomaly in man. This paper aims to investigate the characteristics of tooth absence and associated dental anomalies among the patients attending our paediatric dentistry clinic. SUBJECTS AND METHODS: For this study, 192 patients aged between 1 and 18 years with congenitally missing teeth were selected among the patients who attended the Department of Paediatric Dentistry of Süleyman Demirel University between January 2000 and December 2003. Clinical and radiographic examinations were performed by two dentists in order to detect the missing teeth. RESULTS: We determined 503 congenitally missing teeth in 192 patients (male = 93, female = 99), excluding third molars. Twelve of these teeth were deciduous and 491 were permanent. A higher incidence of missing teeth was observed in girls than boys, in mandibular arch than maxillary and on the right side than left side. However the differences between arches and sides were not statistically significant in both sexes. CONCLUSION: The diagnosis of the hypodontia should be performed as early as possible, thus alternative treatment modalities can be planned and performed in a multidisciplinary team approach, in order to establish an aesthetic and functional dentition in the future.     

Symmetry and combinations of hypodontia in non-cleft and cleft palate children

Abstract — Symmetry and combinations of hypodontia was studied and compared in non-cleft (NONC) and cleft palate (CP) groups with different prevalences of hypodontia. The NONC group included 300 children with one or more congenitally absent permanent teeth, excluding the third molars, and 79 children with isolated cleft palate without accessory anomalies. There were no significant differences between the groups in distribution of children with agenesis of 1 to 11 teeth. Bilateral agenesis increased with increasing number of absent teeth per child, and it was more frequent in the maxillary teeth of the NONC group and in the mandibular teeth of the CP group. Concomitant agenesis was observed in one to four different dental fields per child, and the distribution of the subjects was similar in both groups. We conclude that the symmetry of agenesis may be dependent on the population frequency of hypodontia and on the number of absent teeth per child. The agenesis in the CP group may have a common genetic basis, but the substantially higher incidence of hypodontia in the maxilla is likely caused by factors similar to those causing the cleft itself.     

Oral health-related quality of life and severe hypodontia

The aims of the study were to assess oral health-related quality of life (ohqol) impact among patients with severe hypodontia and to determine the association between ohqol and the number of missing teeth. Twenty-five patients with severe hypodontia (four or more missing permanent teeth) self-completed the child perception questionnaire (CPQ) to assess oral symptoms (OS), functional limitation (FL), emotional well-being (EWB) and social well-being (SWB). Correlation between CPQ scores (overall and at domain level) and the number of missing teeth was assessed. All participants reported ohqol impact, 100% reported experiencing OS, 88% FL, 55% EWB and 100% SWB impacts. The correlation between the number of missing permanent teeth and the CPQ scores was moderate: overall CPQ score (r = 0.54), OS (r = 0.41), FL (0.52), EWB (0.52), SWB (0.49), P < 0.05. Having accounted for retained primary teeth (where a retained primary tooth was considered to have compensated for a missing permanent tooth), the correlation between the number of missing teeth and CPQ scores was strong: overall CPQ score (r = 0.94), OS (r = 0.78), FL (0.88), EWB (0.92), SWB (0.70), P < 0.001. Subjects with severe hypodontia report considerable ohqol impact. The number of missing permanent teeth was moderately correlated with ohqol. However, when retained primary teeth were taken into account, the number of missing teeth was highly correlated with ohqol. This study has implications in understanding the impact of hypodontia on quality of life and highlights the importance of retaining primary teeth in children and adolescents with severe hypodontia.