CAJ | 학술논문

目的分析GJB2突变致聋患者父母(GJB2 235delC单杂合突变携带者)的听力变化特点.方法 32例30～60岁经直接测序法证实为GJR2基因235delC单杂合突变的携带者作为研究对象,选择32例年龄和性别相匹配的无GJB2基因突变的健康人作为对照组.两组均进行纯音测听,比较不同年龄段各频率纯音听阈的差异.结果与对照组相比,突变基因携带者各年龄段4000及8000 Hz高频听力均下降,且从40～49岁年龄段开始1000及2000 Hz中频听力也开始出现减退,差异具有统计学意义(P值均＜0.05);随着年龄的增加,听力损失有逐渐加重的趋势.结论 GJB2235delC致聋等位基因携带者可能是耳聋的危险群体,不仅存在高频听力损失,40岁以后即可能出现中频听力下降.
목적 분석GJB2돌변치롱환자부모(GJB2 235delC단잡합돌변휴대자)적은력변화특점.방법 32례30～60세경직접측서법증실위GJR2기인235delC단잡합돌변적휴대자작위연구대상,선택32례년령화성별상필배적무GJB2기인돌변적건강인작위대조조.량조균진행순음측은,비교불동년령단각빈솔순음은역적차이.결과 여대조조상비,돌변기인휴대자각년령단4000급8000 Hz고빈은력균하강,차종40～49세년령단개시1000급2000 Hz중빈은력야개시출현감퇴,차이구유통계학의의(P치균＜0.05);수착년령적증가,은력손실유축점가중적추세.결론 GJB2235delC치롱등위기인휴대자가능시이롱적위험군체,불부존재고빈은력손실,40세이후즉가능출현중빈은력하강.
Objective To analyze GJB2 235delC monoallelic mutation carrier individuals and test the possible presence and incidence of audiometric abnormalities among 30 - 60 years old carriers of the 235delC mutations.Methods A total of 32 unrelated subjects with nonsyndromic hearing loss were screened for the 235delC mutation.Tonal audiometric analysis was performed on the 235delC mutation carrier group and on a non-carrier control group.Results Audiometric evaluations in the control group showed the presence of thresholds within normal limits at all frequencies,while carriers of the 235delC mutation presented with decreasd hearing at 1000 Hz and 2000 Hz (age 40-49 years and 50-59 years) ,and 4000 and 8000 Hz( age 30-59 years) ,P ＜ 0.05.The hearing loss of carriers gradually increased with age.Conclusions GJB2 235delC heterozygous carriers may be a risk group for high-frequency hearing loss.Hearing thresholds may deteriorate in the intermediate frequencies over the age of 40.