蒙古族牙本质发育不全Ⅱ型一大家系临床分析

基础医学与临床 ›› 2009, Vol. 29 ›› Issue (8): 796-800.

蒙古族牙本质发育不全Ⅱ型一大家系临床分析

吴柒柱白海花张昕原陈宇杰刘海萍邱长春

内蒙古民族大学内蒙古民族大学内蒙古民族大学内蒙古民族大学内蒙古民族大学中国医学科学院基础医学研究所

收稿日期:2008-07-14 修回日期:2008-09-24 出版日期:2009-08-20 发布日期:2009-08-20
通讯作者: 白海花

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

Qi-zhu WU, Hai-hua BAI, Xin-yuan ZHANG, Yu-jie CHEN, Hai-ping LIU, Chang-chun QIU

Inner Mongolia University for the Nationalities IBMS, CAMS & PUMC

Received:2008-07-14 Revised:2008-09-24 Online:2009-08-20 Published:2009-08-20
Contact: Hai-hua BAI,

摘要/Abstract

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线片等结果显示，发现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。

关键词: 蒙古族, 牙本质发育不全Ⅱ型, 家系

Abstract: Objective To decipher the clinical characteristics and genetic bases of Dentinogenesis imperfecta type II in a large Mongolian family. Methods Systematic analysis towards this family was carried out using clinical detection. Results Affected individuals of Dentinogenesis imperfecta type II were consecutively found in a five-generation family. The morbidity of the offsprings is nearly 1/2 and no sexual difference is observed. The analysis of clinical features as well as dental x-ray film show that it is not completely the same compared with other families. Conclusions 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 investigate the association of this heterogeneity with lifestyle or genetic information.

Key words: Mongolian, Dentinogenesis imperfecta type II, pedigree

吴柒柱白海花张昕原陈宇杰刘海萍邱长春. 蒙古族牙本质发育不全Ⅱ型一大家系临床分析[J]. 基础医学与临床, 2009, 29(8): 796-800.

Qi-zhu WU; Hai-hua BAI; Xin-yuan ZHANG; Yu-jie CHEN; Hai-ping LIU; Chang-chun QIU. Clinical analysis of Dentinogenesis imperfecta type Ⅱ in a large Mongolian family[J]. Basic & Clinical Medicine, 2009, 29(8): 796-800.

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