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目的：分析5个大前庭水管综合征家系SLC26 A4基因的分子流行病学特点。方法收集5个大前庭水管综合征家系的病史资料和家系成员的外周血，提取基因组 DNA，应用耳聋基因芯片联合 DNA测序法对5个家系的6例耳聋患者及11例听力正常者进行SLC26A4基因突变检测。结果5个家系中共发现SLC26A4基因IVS7-2A＞G、2168A＞G、1229C＞T、IVS15＋5G＞A、679G＞C 5种不同的已知致病突变，6例患者均为复合杂合突变，11例听力正常者均为单个等位基因突变的杂合携带者。在所有的突变中，IVS7-2A＞G突变的发生率最高。结论5个家系的6例耳聋患者都是SLC26A4基因复合杂合突变导致前庭水管扩大，符合常染色体隐性遗传机制。“,”Objective To analyze the molecular epidemiology of SLC26A4 mutations in 5 families associated with en-largevestibularaqueductsyndrome(EVAS).Methods 5familiesassociatedwithEVASwereincludedinthisstudy. Family history and clinical information were collected from all families.Genomic DNA samples were extracted from pe-ripheral blood of all the members in those families and examined with the DNA microarray and sequencing in SLC26A4 gene.Results We found 5 types of mutation totally,including IVS7-2A>G,2168A>G,1229C>T,IVS15 +5G>A and 679G>C.Compound heterozygous mutations in SLC26A4 gene were found in 6 patients,and 11 cases of normal hearing were also heterozygous carriers of mutation.IVS7-2A>G was the most common mutation.Conclusion Hear-ing loss in the 6 patients of the 5 families is all caused by different biallelic mutations of SLC26A4,in accordance with autosomal recessive genetic mechanisms.