中华耳科学杂志2016，Vol.14Issue(6)：747-752,6.DOI:10.3969/j.issn.1672-2922.2016.06.010
2598例非综合征型耳聋患者基因型与临床表型的分析
Analysis of Genotypes and Clinical Phenotypes in 2,598 Patients with Non-Syndromic Deafness
摘要
Abstract
Objective To investigate the correlation between GJB2 gene and mitochondrial DNAA1555G mutation and clinical audiology and age of onset in non-syndromic deafness. Methods GJB2 and mitochondrial DNAA1555G muta-tions 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 (χ2=10.064, P=0.007). The rate of GJB2 pathogenic mutations was highest in patients with profound hearing loss (10.43%), followed by pa-tients with severe (8.81%) and moderate hearing (8.03%) (χ2=8.32, P=0.04). No GJB2 pathogenic mutation was found in pa-tients with mild hearing loss. The mtDNAA1555G detection rate showed no significant difference among patients with dif-ferent degrees of hearing loss (χ2=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%) (χ2=13.434, P=0.000), while the preva-lence of mtDNAA1555G mutation showed no significant difference (χ2=0.089, P=0.766). The age of deafness onset was dif-ferent in patients with GJB2 mutations than those with mtDNAA1555G mutation (χ2=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 muta-tions, and is in the profound loss category in most cases. Hearing loss in patients with mtDNAA1555G mutation is relatively mild. GJB2 mutations tend to cause pre-lingual onset deafness, while mtDNAA1555G mutation seems to affect patient of various ages.关键词
GJB2/线粒体DNAA1555G/听力损失/年龄Key words
GJB2/mitochondrial DNAA1555G/hearing loss/age分类
医药卫生引用本文复制引用
王芳,陈小婉,徐百成,刘晓雯,朱一鸣,陈兴健,郭玉芬..2598例非综合征型耳聋患者基因型与临床表型的分析[J].中华耳科学杂志,2016,14(6):747-752,6.基金项目
国家自然科学基金项目(编号81570926)、甘肃省省青年科技基金计划（编号1606RJYA227）1 National Natural Science Foundation of China（81570926）；2 Gansu Provincial Youth Science and Technology Fund Projects （编号81570926）
