摘要
目的通过对忻州地区83例耳聋患者常见基因GJB2、GJB3和线粒体DNA 12S rRNA 1555A>G测序分析,从分子水平研究该地区人群聋病的遗传病因和特点,为临床防聋治聋提供策略、依据。方法收集忻州地区83例耳聋患者外周血样本,提取DNA后对目的基因扩增并进行测序分析。结果 83例耳聋患者中GJB2基因检测到57例发生突变,9个突变位点,与编码连接蛋白的非综合症耳聋突变数据库(http://davinci.crg.es/deafness/index.php?seccion=mut_db&db=nonsynd)比对,8个位点已见报道,其中包括3个多态位点c.79 G>A、c.341 A>G、c.368 C>A和5个致病位点c.235delC、c.30-35delC、c.109 G>A、c.176-c.191 del16和c.299-c.300delAT,其中,c.79 G>A和c.341 A>G是主要突变方式,携带率为30.12%(42/174)和23.49%(39/166)。新发现1例未见报道的突变位点c.186C>T;患者均未检测出GJB3和线粒体DNA 12S rRNA 1555A>G基因突变位点。结论通过对忻州地区常见耳聋基因突变位点的研究,了解忻州地区该基因突变谱,为后续国内耳聋基因型分布提供数据支持,同时也为耳聋的早期诊断、治疗提供理论依据。
Objective： To investigate common deafness genes mutations of 83 deaf patients in Xinzhou area by sequencing analysis, such as GJB2, GJB3 and mitochondrial DNA 12S rRNA 1555A〉G, in order to understand their hereditary etiologies and characteristics at the molecular level and provide evidence and strategies for prevention and treatment. Method： 83 deaf patients＇ blood samples have been collected. PCR and sequencing analysis target gene after extracting DNA. Result： GJB2 gene locus mutation were seen in 57 of the 87 patients, 9 mutations. Comparison with the syndrome deafness mutation database （http： Ildavinci.crg.esldeafnesslindex.php？seccion=mut_db＆db=nonsynd） , 8 mutations have been reported, include 3 polymorphic sites, c.79 G〉A, c.341 A〉G, c.368 C〉A and 5 disease causing gene c.235de1C, c.30-35delC, c.109 G〉A, c.176-c.191 del16和c.299-c.300delAT, what＇ more, the major ways of mutation is c.79 G〉A （30.12%） and （c.341 A〉G） . Mutation in c.186C〉T is a new discovery in GJB2 gene. We had not found GJB3 and mtDNA 12S rRNA 1555A〉G mutation in all samples. Conclusion： Our study of common deafness gene mutations in Xinzhou area have showed that gene mutation spectrum of Xinzhou, what contribute for data support of deafness genotype distribution in China, at the same time for the early diagnosis of deafness, provide the theory basis for treatment.
出处
《中国优生与遗传杂志》
2014年第8期17-19,共3页
Chinese Journal of Birth Health & Heredity
