Dai Pu, Yu Fei, Kang Dong-yang, Zhang Xin, Liu Xin, Mi Wen-Zong, Cao Ju-Yang, Yuan Hui-jun, Yang Wei-yan, Wu Bai-lin, Han Dong-yi
Department of Otorhinolaryngology Head & Neck Surgery, Otorhinolaryngology Institute, Genetic Testing Center for Deafness, General Hospital of Chinese People's Liberation Army, Beijing 100853, China.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2005 Oct;40(10):769-73.
To establish the method of clinic genetic testing for common deaf genes such as mtDNA nt1555, GJB2 gene and SLC26A4 (Pendrin's syndrome gene, PDS) gene.
Three hundred and sixty seven sporadic patients with hearing loss from out-patient department of General Hospital of Chinese People's Liberation Army, 60 patients with history of maternal inherited hearing loss from 27 family, 20 congenital deaf patients from special educational school for deaf and dumb, 3 deaf patients with enlarged vestibular aqueduct (EVA) confirmed by CT scan, 50 control individuals with normal bone conductive hearing were analyzed. The genetic testing kit for mtDNA A1555G mutation was used to detect mtDNA A1555G mutation. The whole gene sequencing were accomplished in 20 congenital deaf patients. In 3 patients with EVA, fragments covering all exons of PDS gene were analyzed by denatured high productive liquid chromatogram and special exons were sequenced when DHPLC showed abnormal wave patterns of amplicons covering these exons.
Fifty nine patients from 26 family and 5 sporadic patients were found to carry mtDNA A1555G mutation. Among 20 congenital deaf patients, 2 cases were found to have homozygous GJB2 235 del C mutation, 1 case had compound 235del C and 299-300 del AT mutation. Other 2 cases carried heterozygous 109 A-G mutation. Among 3 patients with EVA, 1 case was found to have heterozygous PDS G316X mutation and other 2 cases had homozygous 919-2 A-G mutation. CONCLUSIONS Genetic testing for deafness is feasible procedure with remarkable clinic significance.
建立线粒体DNA nt1555、GJB2基因和SLC26A4（佩德林综合征基因，PDS）基因等常见致聋基因的临床基因检测方法。
对解放军总医院门诊的367例散发性听力损失患者、来自27个家庭的60例有母系遗传听力损失病史的患者、聋哑特殊教育学校的20例先天性耳聋患者、经CT扫描确诊的3例大前庭导水管（EVA）耳聋患者以及50例骨导听力正常的对照个体进行分析。使用线粒体DNA A1555G突变基因检测试剂盒检测线粒体DNA A1555G突变。对20例先天性耳聋患者进行全基因测序。对3例EVA患者，通过变性高效液相色谱分析覆盖PDS基因所有外显子的片段，当变性高效液相色谱显示覆盖这些外显子的扩增子波形异常时，对特定外显子进行测序。
在26个家庭的59例患者和5例散发性患者中发现携带线粒体DNA A1555G突变。在20例先天性耳聋患者中，2例发现有纯合的GJB2 235del C突变，1例有复合的235del C和299 - 300del AT突变。另外2例携带杂合的109A - G突变。在3例EVA患者中，1例发现有杂合的PDS G316X突变，另外2例有纯合的919 - 2A - G突变。结论：耳聋基因检测是可行的，具有显著的临床意义。
