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中文摘要：
目的分析中国常见耳聋基因突变在不同发病或就诊年龄组重度耳聋人群中的阳性检出率,为更有效地应用临床耳聋基因诊断提供依据。方法 839名经听力学检查确诊为双耳重度以上感音神经性耳聋的先证者,接受了一项或多项常见耳聋基因检测,包括GJB2编码区测序、SLC26A4编码区测序、线粒体DNA C1494T及A1555G突变基因芯片检测。将839例受检者按发病年龄和就诊年龄各分为四组（0～10岁,11～30岁,31～50岁,50岁～）。分别对每组受检者的常见耳聋基因突变阳性检出率进行统计分析。结果 GJB2和SLC26A4基因均在发病年龄为0～10岁组中的阳性检出率最高（分别为22.10%和34.32%）（P=0.003,P=0.000）。GJB2和SLC26A4基因突变均在就诊年龄为0～10岁组中的阳性检出率最高（分别为24.69%和34.52%）（P=0.000,P=0.000）。线粒体DNA 1555/1494位点突变则分别在发病年龄为0～10岁组中和就诊年龄为11～30岁组中阳性检出率最高（分别为2.45%和2.36%）,但无显著性差异（P=0.357）。结论双耳重度感音神经性耳聋患者常见耳聋基因突变检出率高;发病年龄及就诊年龄为10岁以下的双耳重度感音神经性聋患儿应常规进行耳聋基因诊断。
英文摘要：
Objective To determine prevalence of common genetic mutations in the patients with severe and profound hearing loss at different ages of onset and presentation to provide guidance for appropriate genetic testing.Methods The 839 patients received at least one of three genetic tests including：mutations in coding region of GJB2,SLC26A4 with sequencing analysis and mitochondrial DNA C1494T/A1555G with microarray detection.Patients were divided into four groups according to ages of hearing loss onset and clinic presentation（0-10,11-30,31-50 and 50-years） and the prevalence of mutations was determined for each group.Results The prevalence of GJB2 and SLC26A4 mutations were the highest among those whose hearing loss started at 0-10 years of age（22.10% and 34.32%,respectively,and P = 0.003 and P = 0.000）.The same was true for those who sought medical attention at 0-10 years of age（24.69% and 34.52%,respectively,and P = 0.000 and P 0.001）.While the prevalence of mitochondrial DNA A1555G/C1494T was also the highest among those with onset of hearing loss at 0-10 years,it was the highest for those who sought medical care at 11-30 years of age,although the difference was not statistically significant（P = 0.357）.Conclusion Children with bilateral severe and profound hearing loss need routinely to undergo genetic testing when presenting under the age of 10.
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