Van Der Woude综合征的遗传学分析  

A genetic analysis of Van Der Woude syndrome families

作　　者：王晓方[1] 刘嘉利[1] 肖明振[1] 张海兵[2] 胡蓝靛[2] 孔祥银[2] 

机构地区：[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

出　　处：《中国临床康复》2003年第14期2068-2069,共2页Chinese Journal of Clinical Rehabilitation

基　　金：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。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.

关 键 词：VAN Der Woude综合征 遗传学 POPLITEAL pterygium综合征 腭裂 隐腭裂 缺牙 唇瘘 

分 类 号：R782.2[医药卫生—口腔医学] R394[医药卫生—临床医学]