《5个Van der Woude综合征的家系调查和遗传特点分析》.pdfVIP

第26 卷 第5 期 武汉大学学报 （医学版） VoI. 26 No. 5 2005 年9 月 MedicaI JournaI of Wuhan University Sept ，2005 5 个Van der Woude 综合征的家 系调查和遗传特点分析 叶晓茜 边 专 金辉喜 武汉大学口腔医学院口腔生物医学工程教育部重点实验室 武汉 430079 摘要 目的：探讨中国人Van der Woude 综合征（VWS ）的临床表型及遗传学特点。方法：先证者法收集5 个 VWS 家系并进行口腔专科检查和家系调查，分析不同VWS 家系个体或同一家系不同个体的临床表型，绘制家系图 谱，明确可能的遗传方式。结果：5 个VWS 家系基本符合常染色体显性遗传特征，患者多数表现为典型的VWS 症 状，个别患者表现为罕见的唇瘘微型。不同家系个体和同一家系的不同个体临床表型存在明显差异。结论：收集 的5 个家系均为常染色体显性VWS ，且疾病的外显率高，表现度变异大。 关键词 Van der Woude 综合征；常染色体显性遗传；外显率；表现度 中图分类号 R782 . 2 文献标识码 A 文章编号 167 1-8852（2005 ）05-0609-03 Clinical and Genetic Features in Five Chinese Kindreds with Van der Woude Syndrome Ye Xiaogian ，Bian Zhuan ，Jin Huixi Key Laboratory of Oral Biomedical Engineering of Ministry of Education ，School of Stomatology ，Wuhan Uniuersity ，Wuhan 430079 ，China Abstract Objective ：To investigate the cIinicaI and genetic features of Van der Woude syndrome in Chinese famiIies. Methods ：Five pedigrees were coIIected through the identified probands. CarefuI oraI examina- tions were taken by two dentists. CIinicaI manifestations between and within each famiIy were recorded. PossibIe inheritance modes were anaIysed. Results ：Of the five pedigrees investigated ，an autosomaI dominant inheritance pattern was suggested. AII patients had typicaI sympotoms ，some affected individu- aIs had microform of the Iip pits ，and however ，the phenotype of different patients was distinguishabIe. Conclusion ：In our study ，Va