| Van Der Woude综合征的遗传学分析 |
| |
| 引用本文： | 王晓方,刘嘉利,肖明振,张海兵,胡蓝靛,孔祥银.Van Der Woude综合征的遗传学分析[J].中国组织工程研究与临床康复,2003,7(14):2068-2069. |
| |
| 作者姓名： | 王晓方 刘嘉利 肖明振 张海兵 胡蓝靛 孔祥银 |
| |
| 作者单位： | 1. 解放军第四军医大学口腔医学院牙体科,陕西省西安市,710032
2. 中国科学院生命科学院健康科学中心,上海市,200025 |
| |
| 基金项目： | 国家863课题(2002BA711A07)~~ |
| |
| 摘 要： | 目的对4个VanderWoude综合征(VWS)家系和1个Poplitealpterygium综合征(PPS)家系进行进行遗传学分析。方法对以上家系进行临床表型观察,计算表型分布频率和表型基因频率。结果VWS表型分布频率为:腭裂或隐腭裂(82%),唇瘘(52%),缺牙(22%);表型基因频率约为1/50000。结论VanderWoude综合征表型变化可能是由于存在特定的修饰基因,进一步寻找修饰基因将为临床基因治疗和基因诊断提供分子基础。
|
| 关 键 词： | 牙缺失 系谱 突变 |
| 文章编号： | 1671-5926(2003)14-2068-02 |
| 修稿时间： | 2003年3月24日 |
A genetic analysis of Van Der Woude syndrome families |
| |
| Wang Xiaofang,Liu Jiali,Xiao Mingzheng.A genetic analysis of Van Der Woude syndrome families[J].Journal of Clinical Rehabilitative Tissue Engineering Research,2003,7(14):2068-2069. |
| |
| Authors: | Wang Xiaofang Liu Jiali Xiao Mingzheng |
| |
| Affiliation: | Wang Xiaofang,Liu Jiali,Xiao Mingzheng,Department of Dentistry,Hospital of Stomatology,Fourth Military Medical University,Xi'an 710032,Shaanxi Province,China Zhang Haibing,Hu Landian,Kong Xiangyin,Health Science Center,Institute of Life Science,the Chinese Academy of Science,Shanghai 200025,China |
| |
| Abstract: | Aim To investigate the clinical phenotype and genetic characters of four Van Der Woude syndrome(VWS) families and one Popliteal pterygium syndrome (PPS) family.Methods Clinical observation was conducted to calculate the phenotypic distribution frequency and gene frequency.Results The phenotypic distribution frequencies were cleft palate/submucous cleft palate(82%), bilateral lip pits (52%), hypodontia(22%); The phenotypical gene frequency was about 1/50000.Conclusion A specific modifier gene may induce the phenotypic changes of VWS and PPS, providing the molecular basis for clinical gene therapy and diagnosis in future. |
| |
| Keywords: | tooth loss pedigree mutation |
| 本文献已被 CNKI 万方数据 等数据库收录！ |
|
