携带GJB2基因突变中老年人的听力学特点分析

An Analysis of the Auditory Characteristics of the Middle Aged and Senior Persons with GJB2 Gene Mutation

朱玉华;翟所强;戴朴;袁慧军;于睿莉;孙艺;李建忠;

1:解放军总医院耳鼻咽喉科研究所

摘要
目的对中老年人进行GJB2基因突变筛查,探讨携带不同GJB2基因突变的中老年人的听力情况。方法收集648例中老年人的听力学资料和血样,提取基因组DNA,经聚合酶链反应(polymerase chain reaction,PCR)扩增GJB2基因编码区,利用直接测序方法获得基因型,并应用统计学分析方法研究携带GJB2基因突变的中老年人在不同听力组间的分布情况及携带不同GJB2基因突变中老年人的听力情况。结果根据听力学资料,将所有中老年人分为四组:正常对照组(A组,157人,24.23%)、轻度听力下降组(B组,199人,30.71%)、中度听力下降组(C组,226人,34.88%)、重度听力下降组(D组,66人,10.19%);通过直接测序的方法,共发现22例分别携带4种移码突变,包括235delC杂合突变(16例,2.78%)、299-300delAT杂合突变(3例,0.46%)、176-191del16杂合突变(1例,0.15%)、512insAACG杂合突变(2例,0.31%);所有突变携带者在不同组间的分布情况为:正常对照组3人(13.64%)、轻度听力下降组6人(27.27%)、中度听力下降组8人(36.36%)、重度听力下降组5人(占22.73%);对四种突变携带者的听力学情况进行分析,176-191del16突变携带者的听力下降程度最轻,而512insAACG突变携带者的听力下降程度最重,经统计学分析,左耳0.25 kHz频率的平均听阈值在各种突变携带者间的差异具有统计学意义(P=0.03)。结论与整体中老年人群相比,携带GJB2基因突变的中老年人在中度听力下降组和重度听力下降组间所占的比例增高;各种突变携带者听力下降程度不同。
关键词
年龄相关性听力损失;GJB2基因;突变;测序
基金项目(Foundation):
国家科技支撑计划资助(2006BAI02B06)
作者
朱玉华;翟所强;戴朴;袁慧军;于睿莉;孙艺;李建忠;
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