摘要
目的调查内蒙古赤峰市聋哑学校重度感音性耳聋病因学情况。方法对赤峰市聋哑学校140名学生进行耳聋病因问卷调查、纯音听阈测试。所有受检学生均采集外周血并提取DNA,进行线粒体DNA 12SrRNA A1555G点突变检测、GJB2基因突变检测。结果 1例(0．71％)存在线粒体DNA A1555G点突变;16例(11．43％)存在GJB2 235delC纯合突变,19例(13．57％)存在GJB2 235delC杂合突变。结论赤峰市耳聋患者存在较高的遗传性耳聋发生率,并呈现明显的地域特点。通过聋病分子诊断,可达到防聋、指导聋儿康复及评估耳聋预后等积极效果。
Objective To survey the etiologic causes of severe-profound hearing loss in Chifeng, Inner Mongolia. Methods The evaluation of hearing loss, etiologic survey and the molecular genetic analysis for genes common to hereditary hearing disorders were performed in 140 hearing impairment students at the Deaf-Mute School in Chifeng. Results Of 140 patients with nonsyndromic hearing impairment （NSHI） one was found to carry the mtDNA 12SrRNA A1555G mutation; 16 cases were shown to carry the GJB2 235delC homozygous mutation while other 19 cases, to carry the GJB2 235delC heterozygous mutation. Conclusions There are a high frequency （25.71%） of the GJB2 gene and mtDNA mutations among the deaf-mute students in Chifeng, Inner Mongolia. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss.
出处
《中华耳科学杂志》
CSCD
2006年第1期6-8,共3页
Chinese Journal of Otology
基金
国家自然科学基金(30572015)国家教育部归国人员启动基金中国人民解放军总医院院长基金(03YZJJ007)
