Waardenburg综合征Ⅱ型一家系基因突变研究

摘要

Objective To study the molecular etiology in a family affected with type II Waardenburg syndrome (WS2 ) to increase our knowledge for improved genetic analysis and counseling for WS2. Methods A patient with type II WS was inter-viewed with questionnaires. Genomic DNA of the patient and his family members was extracted. Complete coding exons of the MITF, SNAI2, EDNRB, EDN3, SOX10 and PAX3 genes were amplified and sequenced to identify mutations. The raw data were analyzed with the GeneTool software and information from molecular biological websites. Results No pathological muta-tions with a clear relationship to WS2 was found in the WS2 relevant genes of MITF, SNAI2, EDNRB, EDN3, SOX10 and PAX3. Conclusion We speculate that there are other new causative genes for WS2, which need to be further studied with whole exome sequencing (WES).%目的：研究Waardenburg Syndrome(瓦登伯格综合征)Ⅱ型一个家系病例的分子病因，丰富对Waardenburg综合征Ⅱ型(WS2型)的基因诊断及遗传咨询的认识。方法采集1个Waardenburg综合征Ⅱ型家系，问卷式调查留取临床资料，签署知情同意书获得先证者及一级亲属血样。提取血基因组DNA，聚合酶链反应扩增MITF、SNAI2、EDNRB、EDN3、SOX10、PAX3基因编码区全部外显子，在ABI自动测序仪上双向测序，利用GeneTool软件及生物信息学网站判读分析数据。结果在一个Waardenburg综合征Ⅱ型家系中未找到已知WS2型相关基因MITF、SNAI2、EDNRB、EDN3、SOX10、PAX3的病理性突变。结论Waardenburg综合征Ⅱ型还存在新的致病基因，下一步需要利用全外显子组测序技术对本家系进行致病基因的研究。