中文摘要：

目的探讨GJB2基因和线粒体DNAA1555G与临床听力学、发病年龄的相关性。方法对收集的2598例非综合征型耳聋患者进行GJB2和线粒体DNAA1555G检测,然后对GJB2纯合与复合杂合突变患者的听力学表型进行统计学分析,并对GJB2致病突变患者、线粒体DNAA1555G阳性检出者与患者的听力学表型及发病年龄进行统计学分析。结果 1在GJB2纯合突变样本中,极重度、重度、中度、轻度的检出率依次为74.65%、19.27%、5.63%、0%;复合杂合样本中,极重度、重度、中度、轻度的检出率依次是56.60%、37.74%、5.66%、0%。GJB2纯合与复合杂合突变所致的听力损失程度之间的差异具有统计学意义（χ^2=10.064,P=0.007）。2在GJB2致病突变患者中,听力损失程度构成比：极重度10.43%、重度8.81%、中度8.03%、轻度0%,四组之间的差异有统计学意义（χ^2=8.32,P=0.04）。在线粒体DN-AA1555G阳性患者中,听力损失程度构成比之间的差异无统计学意义（χ^2=6.90,P=0.07）。3GJB2致病突变患者中语前聋发病率为11.96%,语后聋发病率为3.83%,二者之间的差异有统计学意义（χ^2=13.43,P=0.00）;GJB2致病突变患者中各年龄组之间的发病率差异具有统计学意义（χ^2=17.36,P=0.00）。A1555G阳性患者中语前聋与语后聋发病率之间的差异无统计学意义（χ^2=0.089,P=0.766）;A1555G阳性患者中各年龄组之间的差异无统计学意义（χ^2=2.76,P=0.59）。GJB2与A1555G基因突变患者在发病年龄构成比上的差异有统计学意义（χ^2=9.90,P=0.02）。结论 GJB2纯合突变患者的听力损失程度重于复合杂合突变患者;GJB2致病突变患者的听力损失程度以极重度为主,A1555G阳性患者的听力损失程度相对较轻;GJB2致病突变患者多集中于语前聋,线粒体DNAA1555G阳性患者在各年龄均可发病。

英文摘要：

Objective To investigate the correlation between GJB2 gene and mitochondrial DNAA1555 G mutation and clinical audiology and age of onset in non-syndromic deafness. Methods GJB2 and mitochondrial DNAA1555 G mutations were tested in 2,598 patients with non-syndrome deafness and the results analyzed. Results Hearing loss caused by GJB2 homozygous mutations was different from that caused by GJB2 compound heterozygous mutations（χ^2=10.064, P=0.007）. The rate of GJB2 pathogenic mutations was highest in patients with profound hearing loss（10.43%）, followed by patients with severe（8.81%） and moderate hearing（8.03%）（χ^2=8.32, P=0.04）. No GJB2 pathogenic mutation was found in patients with mild hearing loss. The mt DNAA1555 G detection rate showed no significant difference among patients with different degrees of hearing loss（χ^2=6.901, P=0.068）. The prevalence of GJB2 pathogenic mutations was higher in patients with pre-lingual deafness（11.96%） than those with post-lingual deafness（3.83%）（χ^2=13.434, P=0.000）, while the prevalence of mt DNAA1555 G mutation showed no significant difference（χ^2=0.089, P=0.766）. The age of deafness onset was different in patients with GJB2 mutations than those with mt DNAA1555 G mutation（χ^2=9.901, P=0.019）. Conclusions Our study shows that hearing loss in patients with GJB2 homozygous mutations is more severe than those with compound mutations, and is in the profound loss category in most cases. Hearing loss in patients with mt DNAA1555 G mutation is relatively mild. GJB2 mutations tend to cause pre-lingual onset deafness, while mt DNAA1555 G mutation seems to affect patient of various ages.