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为了探讨非综合征性耳聋易感基因检出率与年龄因素的相关性及其发病特点,文章收集了2006年4月～2012年4月在温州医学院附属第二医院就诊的215名非综合征性耳聋患者,按就诊年龄和发病年龄分别分为成人组(>18岁)及未成人组,后者又分为婴幼儿组(0~3岁)、学龄前组(3~6岁)、学龄组(6~18岁),提取基因组DNA,然后进行GJB2和线粒体DNA A1555G/C1494T基因检测,并对其阳性检出率及年龄构成比进行统计学分析。结果显示,GJB2基因突变的检出率为18.14%,线粒体DNAA1555G/C1494T基因突变为11.16%;就诊年龄为成人组的GJB2基因突变检出率低于未成人组(分别是5.26%,22.36%),线粒体DNA A1555G/C1494T基因突变则高于未成人组(分别是31.48%,4.97%),组间有统计学差异(χ2分别为7.108、20.852,P分别为0.008、0.000);发病年龄为成人组及未成人组GJB2基因突变的阳性检出率分别为0%和20.10%,组间有统计学差异(χ2=5.157,P=0.023),而线粒体DNA A1555G/C1494T突变的阳性检出率分别为14.29%和11.34%,组间无统计学差异(χ2=0.160,P=0.698);GJB2基因突变的患者发病年龄多集中在l岁以内(66.67%);线粒体DNA A1555G/C1494T突变在各个年龄段均可发病,l岁以内仅占28.00%,3岁以后占40.00%,两者在年龄构成比上有统计学差异(χ2=11.035,P=0.004);采用不同耳聋分级标准判断携带线粒体DNA A1555G/C1494T基因突变者的听力损失程度,结果有统计学差异。这表明GJB2基因突变主要表现为先天性耳聋;线粒体DNA A1555G/C1494T基因突变不仅可表现为先天性耳聋,也可表现为后天进行性耳聋,氨基糖苷类抗生素在其各个年龄段均可诱发或加重耳聋,对其进行听力检测要重视4～8 kHz频率段;新生儿听力筛查联合基因筛查对早期发现遗传性耳聋具有重要的意义。
In order to investigate the correlation between non-syndromic deafness susceptibility gene detection rate and age factors and its incidence characteristics, the article collected from April 2006 ~ April 2012 in Wenzhou Medical College Second Affiliated Hospital of 215 non-integrated Patients with deafness were divided into adult group (> 18 years old) and non-adult group according to the age of diagnosis and age of onset, and the latter were divided into infants and toddlers (0-3 years), preschool children (3-6 years) , Genders group (6-18 years old), genomic DNA was extracted, and then GJB2 and mitochondrial DNA A1555G / C1494T gene were detected, and the positive detection rate and age composition ratio were statistically analyzed. The results showed that the detection rate of GJB2 gene mutation was 18.14%, and the mutation rate of mitochondrial DNA1555G / C1494T gene was 11.16%. The detection rate of GJB2 gene mutation in adult age group was 5.26% and 22.36% , While the mitochondrial DNA A1555G / C1494T gene mutation was higher than that of the non-adult group (31.48%, 4.97%, respectively) (P <0.001) The positive detection rates of GJB2 gene mutation in group and non-adult group were 0% and 20.10%, respectively (χ2 = 5.157, P = 0.023), while the positive detection rate of mitochondrial DNA A1555G / C1494T mutation (14.29%) and 11.34% (χ2 = 0.160, P = 0.698). The age of onset of GJB2 mutations was mostly within 1 year (66.67%). The mitochondrial DNA A1555G / C1494T mutation was significantly different in all age groups (P <0.001). The incidence of the disease was lower in the first stage than that in the second stage (28.00% in the first year and 40.00% in the third year), and the difference was statistically significant (χ2 = 11.035, P = 0.004) A1555G / C1494T gene mutation hearing loss, the results were statistically significant. This indicates that the GJB2 gene mutation is mainly manifested as congenital deafness; mitochondrial DNA A1555G / C1494T gene mutation can not only be manifested as congenital deafness, but also showed progressive acquired deafness, aminoglycoside antibiotics in all age groups can be induced or exacerbated Deafness, its hearing test should pay attention to the frequency band of 4 ~ 8 kHz; Neonatal hearing screening combined with genetic screening of early detection of genetic deafness is of great significance.