摘要
目的 了解锦屏县耳聋发病情况。方法 对锦屏县 75 2例听力残疾人进行了耳聋病因问卷调查、纯音听阈测试 ,并对遗传性耳聋患者采用PCR扩增及限制酶切技术进行线粒体DNA15 5 5A -G点突变筛查。结果 在被调查人中侗、苗族患病比例为 1.35 :1,与当地居民中侗、苗族比例接近 (1.33 :1) ;0～ 14岁组听力残疾人数占被调查人数的 2 1.5 % ,明显高于 1987年全国残疾人抽样调查中 7.12 %的比例 ;个案调查中先天性耳聋占 36 % ,与我国主要大城市以后天性聋为主有较大差别 ;在 2 9例遗传性聋中发现三个家系 10例为mtDNA 12SrRNA 15 5 5A -G点突变家族 ;71例纯音测听者均有不同程度的残余听力。结论 该县耳聋患病情况与当地文化水平及卫生条件有关 ,其康复工作尚处于起步阶段 。
Objective To survey the cause of hearing loss in 752 hearing disabled persons in Jinping country.Methods The degree of hearing loss and the situation of recovery were recorded and the molecular genetic analysis performed.Results The proportion of the hearing loss persons aged 0～14 years old is 21.5%,it is more than the normal proportion.Cases analysis of 132 patients with hearing loss shows that most of the patients are congenital deafness,the ratio is 36%, that is different from the ratios of the main city.In 24 patients who has heredity deafness we have found mtDNA 1555 A-G mutation in three pedigrees.Audiogram of 71 patiens show that they have some degree of hearing but only 8 of them have hearing aid.Conclusions Causes of deafness in this area are diversiform and the language recovery is in the early stage.
出处
《听力学及言语疾病杂志》
CAS
CSCD
2000年第1期21-23,共3页
Journal of Audiology and Speech Pathology
关键词
耳聋
病因
基因
线粒体
Cause of deafness Gene Mitochondria
