DNA微阵列芯片法检测遗传性耳聋基因

Detection of Hereditary Hearing Loss Gene by DNA Microarray

目的 应用基因芯片技术对临床散发性耳聋患者进行基因检测,评价在临床检测中的应用价值。方法 抽取患者静脉血,EDTA抗凝,在万级洁净间内进行DNA提取和PCR扩增杂交,对中国人常见的4个耳聋基因的9个突变位点进行检测。结果 24例患者中,共检出突变7例,阳性率为29.17%,检出GJB2基因突变4例（16.67%）,其中176 del 16位点杂合突变型1例,235 del C位点纯合突变型1例,299 del AT位点杂合突变型2例。1例（4.17%）SLC26A4基因IVS7-2A〉G位点杂合突变型; 2例（8.33%）线粒体12SrRNA基因1555A〉G位点均质突变型,未检出GJB3基因突变。结论 遗传性耳聋基因芯片技术可快速、高通量检出耳聋相关突变位点,满足临床耳聋基因检测需求。

Objective To screen genes in patients with clinically sporadic deafness using DNA microarray and evaluate the application value in the clinical detection. Methods Patient＇s venous blood was drawn up and EDTA for anticoagulation was added in. DNA extraction and PCR amplification were carried out in a myriad class clean room. Four deaf genes and 9 muta- tion sites commonly seen in Chinese people were tested. Results Among 24 patients,7 patients have mutations,with a positive rate of 29.17% ,including 4 patients with GJB2 gene mutation （16.67%） of which I with 176 del 16 site heterozygous mutation; 1 with 235 del C site homozygous mutation;2 with 299 del AT site heterozygous mutation; 1 with SLC26A4 gene IVS7-2A〉G site heterozygous mutation （4.17%）,2 with mitochondrion 12SrRNA gene 1555A〉G site homogeneous mutation （8. 33%）. No GJB3 gene mutation was detected. Conclusion Hereditary hearing loss-related mutation sites can be fast,high throughput screening by DNA mieroarray which meets the demands of deaf gene detection.