摘要
目的调查新疆地区聋哑学生GJB2基因和线粒体DNA12SrRNA A1555G突变情况。方法收集本地区402例感音神经性聋患者基因组DNA,聚合酶链反应扩增线粒体DNA和GJB2基因目的片段,AIw26I限制性内切酶检测线粒体DNA12SrRNA A1555G点突变,对酶切阳性病例和全部GJB2基因PCR产物进行DNA测序。结果维吾尔族、回族和哈萨克族患者中检测到GJB2基因35delG突变,突变携带率分别为5.2%、5.9%和15.4%;汉族和维吾尔族患者检测到GJB2基因235delC突变,突变携带率分别为15.2%和7.1%;维吾尔族患者中发现GJB2基因两种新突变311del14和187delG;9例患者检出线粒体DNA12SrRNA A1555G突变。结论GJB2基因突变在该地区耳聋人群中有较高携带率,新疆地区不同民族GJB2基因突变谱和热点突变存在差异,线粒体DNA12SrRNA A1555G突变是该地区常见聋病基因突变。
OBJECTIVE To investigate the prevalence and characteristics of GJB2 and mitochondrial DNA （mtDNA）A1555G mutations in deaf-mute students with sensorineural hearing loss （SNHL） from Xinjiang Uigur Autonomous Region, China. METHODS To collect 402 deaf-mute students from 4 deaf-mute schools in Xinjiang of China. Peripheral blood samples were obtained to extract genomic DNA. The mtDNA A1555G mutation was detected by PCR-Alw26I digestion and sequence analysis; Polymerase chain reaction （PCR） and direct sequencing were used to analyze the coding region of GJB2 gene. RESULTS GJB2 35delG was found in Uigur, Hui and Kazakstan patients, and the carrier frequency of 35delG mutation was 5.2%, 5.9% and 15.4% respectively. The carrier frequency of the GJB2 235delC in the Han and Uigur patients was 15.2% and 7.1% respectively. Two novel mutations （187delG and 311del14） were found in Uigur patients. The homoplasmic mtDNA A1555G mutation was found in 9 deaf-mute students. CONCLUSION There is a rather high carrier frequency of GJB2 mutations in the SNHL patients in Xinjiang of China. The spectrum and hotpot of GJB2 mutations are different in the SNHL patients in Xinjiang. The mtDNA A1555G mutation is a common deaf-causing mutation in the deaf-mute students from Xinjiang of China.
出处
《中国耳鼻咽喉头颈外科》
北大核心
2009年第4期190-193,共4页
Chinese Archives of Otolaryngology-Head and Neck Surgery
基金
国家863项目(2006AA02Z181)
国家自然基金重点项目(30830104)
国家自然基金面上项目(30572016
30672310
30771203
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)
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(7070002)
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项目(LZUYX200643)联合资助
