蒙古族牙本质发育不全Ⅱ型一大家系临床分析  

Clinical analysis of dentinogenesis imperfecta type Ⅱ in a large Mongolian family

作　　者：吴柒柱[1] 白海花[1,2] 张昕原[1] 陈宇杰[1] 刘海萍[1] 邱长春[3] 

机构地区：[1]内蒙古民族大学,内蒙古通辽028000 [2]内蒙古大学,内蒙古呼和浩特010010 [3]中国医学科学院基础医学研究所,北京100005

出　　处：《基础医学与临床》2009年第8期796-800,共5页Basic and Clinical Medicine

基　　金：国家自然科学基金(30560060)

摘　　要：目的探明蒙古族一大家系牙本质发育不全症的临床特点和遗传学基础。方法采用临床与家系调查相结合的方法对该家系临床特点进行分析。结果该家系中连续5代都出现该病患者,且患者子女中发病率近1/2,亦无性别差异。该家系患者的临床特点、牙齿X线片等结果与已报道的其他民族牙本质发育不全Ⅱ型家系的特点并不完全一致。结论该蒙古族牙本质发育不全家系属于Ⅱ型,常染色体显性方式遗传。临床表型存在高度的异质性,是否与生活习惯或基因多态性有关有待进一步研究。Objective To figure the clinical characteristics and genetic bases of Dentinogenesis imperfecta type Ⅱ in a large Mongolian family. Methods Systematic analysis for this suits Affected individuals of Dentinogenesis imperfecta type Ⅱ family was carried out using clinical detection. Rewere consecutively found in a five-generation family. The morbidity of the offsprings is nearly 1/2 and no sexual difference is found. The analysis of chnical features as well as dental x-ray check showed specific finding that were not found in other families. Conclusion Dentinogenesis imperfecta type Ⅱ in this Mongolian family pertains to autosomal dominant disorder with high genetic heterogeneity in clinical phenotype. Further study is warranted to identify the association of this heterogeneity with lifestyle or genetic information.

关 键 词：蒙古族 牙本质发育不全Ⅱ型 家系 

分 类 号：R781.2[医药卫生—口腔医学]