The clinical application of gene chips combined with CT examination in the diagnosis of large vestibular aqueduct syndrome patients
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摘要: 目的:探讨基因芯片方法及颞骨CT检查诊断大前庭水管的可行性和优越性。目的:选取广州市聋校学生188例,采用基因芯片法对SLC26A4基因位点进行检测,并对检测出有SLC26A4基因突变的26例学生行颞骨CT影像学检查。结果:检测出的26例耳聋患者中IVS7-2A>G纯合突变7例,杂合突变17例,2168A>G杂合突变3例,其中1例为IVS7-2A>G、2168A>G复合杂合突变。颞骨CT 检查发现26例患者中25例确诊为双侧前庭导水管扩大,其中9例伴有双侧耳蜗畸形;1例正常。结论:在SLC26A4基因突变中,IVS7-2A>G位点的突变发生率最高,其次为2168A>G;CT检查大多提示为前庭导水管扩大,耳聋基因芯片检测SLC26A4基因的热点突变可先于颞骨CT检查发现此类患者,用于对耳聋高危人群及产前的筛查,可以做到早期发现,早期诊断,做好防范措施,提前预防语前聋的发生。Abstract: Objective: To explore the feasibility and superiority of the gene chip method and temporal bone CT in diagnosis of large vestibular aqueduct syndrome.Method: One hundred and eighty-eight cases of deaf students in Guangzhou were selected,the microarray detection of the SLC26A4 gene locus was performed,and the 26 cases of students with detected SLC26A4 gene mutations received temporal bone CT imaging.Result: Among the detected 26 cases of patients with hearing loss,IVS7-2A＞G homozygous mutation was found in 7 cases,17 cases were heterozygous mutation,2168A＞G heterozygous mutation presented in three cases, including one case of IVS7-2A＞G and 2168A＞G compound heterozygous mutations. Temporal bone CT findings of 25 cases among the 26 patients showed bilateral large vestibular aqueduct,among which 9 cases exhibited bilateral cochlear malformations, and 1 case was normal.Conclusion: Among the different SLC26A4 gene mutations, IVS7-2A＞G point mutation rates the highest, followed by 2168A＞G. Most of the CT examination prompted the expansion of the vestibular aqueduct. Deafness gene chip hotspot detection of SLC26A4 gene mutations can diagnose such patients before CT examination,which can be used for screening people with high risk of deafness prenatal screening. The early detection and early diagnosis can guide proper precautionary measures in advance to prevent the occurrence of prelingual deafness.
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