摘要
目的:探讨一个非综合征型多数牙缺失家系的临床表型及遗传学特点。方法:对家系内部分患者及正常成员进行口腔专科检查和家系调查,总结分析其临床特征,并绘制系谱图以明确其遗传方式。结果:(1)该家系符合常染色体显性遗传模式,外显率较高;(2)患者牙列发育异常表现在牙齿数目、形态、位置及关系等方面,先天缺牙以第二前磨牙及第三磨牙较为常见;(3)家系内不同个体的临床表型存在差异。结论:该家系中,先天性缺牙呈常染色体显性遗传模式,外显率较高,表型差异较大。其临床特征以第二前磨牙和第三磨牙先天缺失较为多见。
Objective：To investigate the clinical and genetic features of oligodontia in a Chinese family. Methods： Clinical manifestations were recorded by taking complete oral examinations in some individuals from the family with nonsyndromie oligodontia. Pedigree information was confirmed by extended interviews and a pedigree was constructed. Inheritance mode and clinical features were analyzed. Results： （ 1 ） The pattern of inheritance was autosomal dominant with high penetrance in the family. （2） Tooth agenesis displayed both in the patterning and morphogenesis of the dentition, which included the number, morphology, position and occlusion of the teeth. Furthermore, the second premolar and 3rd molar were affected more often. （3） The clinical manifestations varied widely within the family. Conclusion： Non-syndromic oligodontia generally showes an autosomal dominant pattern of inheritance with high penetrance, variable expressivity in the family. The clinical feature is characterized by second premolars and 3rd molars deficiency.
出处
《实用口腔医学杂志》
CAS
CSCD
北大核心
2008年第4期567-570,共4页
Journal of Practical Stomatology
基金
安徽省科技攻关项目(编号:07010300197)
