青海省部分聋校学生线粒体DNA12SrRNA A1555G和GJB2基因突变筛查报告  

Molecular Etiology of Patients with Nonsyndromic Hearing Impairment from Shools for the Deaf in Qinghai Province of China

作　　者：惠培林[1] 郭玉芬[1] 鲍晓林[1] 刘晓雯[1] 王大勇[2] 韩明琨[2] 周瑜[3] 赵翠[3] 王秋菊[2,3] 

机构地区：[1]兰州大学第二医院耳鼻咽喉-头颈外科,兰州730030 [2]解放军总医院耳鼻咽喉-头颈外科、解放军耳鼻咽喉研究所 [3]国家人类基因组北方研究中心

出　　处：《听力学及言语疾病杂志》2009年第1期23-26,共4页Journal of Audiology and Speech Pathology

基　　金：国家863项目(2006AA02Z181);国家自然基金面上项目(30470956,30572016,30672310&30771857);高等学校全国优秀博士学位论文作者专项资金资助项目(200463);军队”十一五”杰出人才项目(06J018);北京市科技计划重大项目(D0906005040291);国家973项目(2007CB507400);北京市重大专项课题项目(07G1014);国家“十一五”科技支撑计划(2006BAI02B06&2007BAI18B12);甘肃省中青年基金课题(3YS061-A25-012);兰州大学医学科研基金(LZUYX200643)联合资助

摘　　要：目的通过对青海省三所聋校非综合征型耳聋(nonsyndromic hearing impairment,NSHI)学生线粒体DNA12SrRNAA1555G突变和GJB2基因突变的调查研究,在分子水平了解青海省非综合征型感音神经性聋发生的病因及其特点。方法采集青海省特殊教育学校、西宁市聋哑学校和乐都县职业教育学校共278例NSHI患者血样,提取基因组DNA,多聚酶链反应扩增线粒体DNA和GJB2基因目的片段,Alw26I限制性内切酶检测A1555G点突变,对酶切阳性病例和全部的GJB2基因的PCR产物进行DNA测序。结果278例感音神经性聋患者中16例(5.76%)存在线粒体DNA12SrRNAA1555G点突变;6例(2.16%)为GJB2235delC纯合突变,21例(7.55%)为GJB2235delC杂合及复合杂合突变,其中235delC是GJB2基因致病突变的主要形式,占88.90%(24/27)。结论线粒体DNA12SrRNA A1555G点突变和GJB2基因突变在青海省耳聋人群中的发生率较高,通过其突变筛查可以有效避免高危人群出现耳聋。Objective To investigate the incidence of the mitochondrial DNA12SrRNA A1555G and connexin26 gene（GJB2） in Qinghai province population with nonsyndromic hearing impairment,and to identify the cause of nonsyndromic hearing impairment in molecular level in the area. Methods Blood samples were obtained from a tolal of 278 patients with nonsyndromic sensorineural hearing loss in special education school of Qinghai province, the school for the deaf of Xining city and school for professional education of Ledu county, respectively. Genomic DNA was extracted from the isolated leukocytes. The mitochondrial A1555G mutation was screened by PCR Alw26I digestion and sequence analysis PCR and direct sequencing were used to analyze the coding region of GJB2 gene. Results Among 278 deaf students, 16 cases （5.76%） were found to carry mtDNA 12SrRNA A1555G mutation, 6 cases （2.16%） to have homozygous GJB2 235delC mutation, and 21 cases （7.55 %） had heterozygous GJB2 235delC mutation. Conclusion The incidence of GJB2 235delC and mtDNA 12SrRNA A1555G mutation in the deaf population of Qinghai province are higher than that in other areas. Molecular genetic screening for these mutations and genetic counseling are effective.

关 键 词：耳聋 GJB2基因 线粒体DNA 突变 

分 类 号：R764.44[医药卫生—耳鼻咽喉科]