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目的探讨利用基因诊断方法先于颞骨CT诊断大前庭水管的可行性和优越性。方法两个家庭各有两个子女患神经性耳聋,家庭1后代为姐妹,家庭2后代为姐弟。所有患者和父母均采集外周血并提取DNA,以试剂盒方法检测PDS基因IVS7-2位点的A-G突变情况,并以序列分析方法分析外显子7+8和19的序列,两个家庭的耳聋患者均行颞骨CT检查。结果两个家系的共同特点为父母非近亲结婚,听力均正常,父母双方家族内无其他成员发生耳聋,但两个家庭均有两个子女患病,患者临床特征为有一定的残余听力,交流良好但发音略含混。试剂盒方法发现家庭1中两个患儿和其父母均见异常条带,Exon7+8序列分析结果显示家系1两个患儿均具有IVS7-2A-G纯合突变,其父母均携带IVS7-2A-G杂合突变,建议两个患儿行颞骨CT检查,报告均为前庭水管扩大。试剂盒方法发现家庭2中一个患儿和其母见异常条带,Exon7+8序列分析结果显示家系2具有异常条带患儿及其母具有IVS7-2A-G杂合突变,进一步的序列分析见此患儿及其父携带PDS2168A-G杂合突变,即此患儿具有PDS的复合杂合突变,随后的颞骨CT检查发现具有异常条带的患儿为前庭水管扩大,而病例4不具有PDS的复合突变,CT显示无前庭水管扩大。结论PDS基因诊断技术在具有PDSIVS7-2A-G热点突变的病例中可以成为颞骨CT的替代诊断工具首先诊断大前庭水管综合征,此项技术在常规耳聋病因学诊断、大规模耳聋患者的病因学筛查和远程医疗诊断方面有较好的应用前景。
Objective To explore the feasibility and superiority of using gene diagnosis method to diagnose large vestibular aqueduct before temporal bone CT. Methods Two families each had two children suffering from neurological deafness, the offspring of family 1 were sisters, and the family 2 offspring were siblings. All the patients and their parents collected peripheral blood and extracted DNA. The AG mutation of IVS7-2 locus of PDS gene was detected by kit method. Sequences of exons 7 + 8 and 19 were analyzed by sequence analysis. Deaf patients underwent temporal bone CT examination. Results The commonalities between the two families were that their parents were non-relatives marrying, their hearing was normal, and no other members of both parents had deafness. However, both families had two children and their clinical features were residual hearing and communication Good but slightly vaguely pronounced Kit method found that two children in the family 1 and their parents were seen abnormal bands, Exon7 +8 sequence analysis showed that both pedigree 1 children with IVS7-2A-G homozygous mutation, both parents carry IVS7- 2A-G heterozygous mutation, it is recommended two children with temporal bone CT examination, the report is vestibular aqueduct enlargement. Kit 2 was found in a case of family 2 and its mother see an abnormal band, Exon7 +8 sequence analysis showed that family 2 with abnormal bands in children and their mothers have IVS7-2A-G heterozygous mutation, further sequence analysis See this child and his father carrying PDS2168A-G heterozygous mutation, that children with complex heterozygous PDS mutations, then the temporal bone CT examination showed abnormal ribbon in children with vestibular aqueduct enlargement, and Case 4 does not have Compound mutations in PDS, CT showed no vestibular aqueduct enlargement. Conclusions The PDS gene diagnosis technique can be used as an alternative diagnostic tool for temporal bone CT in the case of hot spot mutation of PDSIVS7-2A-G. It is the first diagnosis of aqueduct syndrome in large vestibule. This technique is widely used in the etiological diagnosis of general deafness, etiology of large-scale deafness patients Screening and telemedicine diagnosis has good application prospects.