DNA耳聋芯片在越南聋人基因突变检测中的应用

N. Trang, Vu To Giang
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引用次数: 0

摘要

目的:了解越南儿童非综合征性听力损失的耳聋相关基因表现。方法:对河内市250名听障儿童和250名正常儿童应用DNA芯片技术,筛选GJB2、GJB3、SLC26A4、12S rRNA四种耳聋基因的9个突变热点。结果:听力损失参与者中有16人携带突变,占6.4%,对照组为0%。GJB2、GJB3、SLC26A4、12S rRNA突变的携带率分别为4.4%、0%、1.2%和0.8%。结论:早期发现常见耳聋突变是诊断和抢救的重要因素,有助于失聪儿童语言和意识的正常发展。基因芯片检测在遗传性听力损失诊断中是一种有用的仪器筛查方法。
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Application of a DNA Deafness Microarray for Detecting Mutations in the Deaf in Vietnam
Object: To identify the presentation of deafness-related gene caused non-syndromic hearing loss in Vietnamese children.Methods: Apply DNA microarray to 250 hearing-impaired and 250 normal children in Hanoi to screen nine mutational hot spots of four deafness genes, namely GJB2, GJB3, SLC26A4, and 12S rRNA.Results: there are 16 hearing loss participants carried mutations, account for 6.4% in comparison with 0 % of control group. The carrier rates of GJB2, GJB3, SLC26A4, 12S rRNA mutations were 4.4%, 0%, 1.2% and 0.8% respectively.Conclusion: Early detection of common deafness mutations is a factor for diagnosing and rescuing, helping hearing-loss children to develop their language and awareness normally. Microarray testing is a helpful and instrumental screening method in the diagnosis of genetic hearing loss.
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