大前庭水管综合征家系SLC26A4基因传递特征分析

The Hereditary Features of SLC26A4 Mutations in Families Associated with Large Vestibular Aqueduct Syndrome

目的探讨大前庭水管综合征家系SLC26A4基因的传递特征。方法收集3个大前庭水管综合征家系的病史资料和家系成员的外周静脉血各5ml,提取基因组DNA,应用聚合酶链反应(PCR)的方法扩增SLC26A4基因的第8、19外显子,纯化PCR产物后直接测序,使用Sequencher4.9和DNAStar7.0序列比对软件分析SLC26A4基因的突变位点,并对患者的后代发病率进行预测。结果 3个家系中共发现5名患者分别携带SLC26A4基因IVS7-2A>G和H723R的纯合或复合杂合突变,先证者的父母听力均正常,但均为单个等位基因突变的杂合携带者。结论 3个家系中子代患病几率分别为60%、50%和50%。

Objective To analyze the hereditary features of SLC26A4 mutations in families associated with large vestibular aqueduct syndrome （LVAS）. Methods Three families associated with LVAS were recruited in this study. Family history and clinical information were collected from all families. Peripheral blood samples were ob- tained to extract genomie DNA, exons 8 and 19 in the SLC26A4 gene were amplified by intronie polymerase chain reaction （PCR）,and then the PCR products were purified and directly sequenced. The sequences were analyzed with sequeneher or DNAStar 7.0. Results In three families,genotypes were found to be IVST--2A〉G/H723R and IVS7 --2A〉G/ IVS7--2A〉G, respectively from 5 patients. Their parents with normal hearing were carriers of one mutant allele. Conclusion In this study, we have identified the SLC26A4 mutation types and the hereditary features in the three families. The percentages of patients associated with large vestibular aqueduct syndrome were 60%0, 50% and 50% in the three families, respectively. Meanwhile, we have predicted the rate of descendants who could suffer from the disease when the probands marry someone else in the future. It may decrease the number of patients associated with large vestibular aqueduct syndrome.