兰州大学机构库 >学院待认领
中国西北地区回族非综合征型耳聋患者常见聋病
Alternative TitleCharacteristic analysis of frequent deafness-correlative genes mutation in Hui nationality patients with non-syndromic hearing loss from Northwest China
马建鹂
Thesis Advisor郭玉芬
2013-05-14
Degree Grantor兰州大学
Place of Conferral兰州
Degree Name硕士
Keyword回族 非综合征型耳聋 药物性耳聋 线粒体DNA GJB2基因 SLC26A4基因 基因突变 临床流行病学
Abstract耳聋是导致言语交流障碍最主要的原因,遗传因素致聋约占60-80%,其中70%为NSHL,目前研究发现m.1555>G、GJB2和SLC26A4突变是最常见的致病基因,且在不同种族、不同地域其突变形式和突变频率有很大的差异。中国回族是阿拉伯人的后裔,先住哟聚集于中国西北地区,目前国内尚无关于回族聋病基因详细的研究报道,本研究收集来自中国西北地区的420例回族NSHL患者作为研究对象,探究上述三种基因的热点突变和突变频率,分析其特变特征。 线粒体m.1555A>G突变是氨基糖苷类抗生素致聋的分子学病因,在420例研究对象中发现11例患者为m.1555A>G均质性突变,突变携带频率为2.62%。在GJB2基因中发现41例为双等位基因所致,包括纯合和复合杂合,占所有患者的9.76%,是最常见的致聋病因。其中c.235delC等位基因突变频率为6.90%,占所有致病等位基因的51.33%,是GJB2最常见的突变方式;20例为SLC26A4双等位基因改变,占所有患者的20/420(4.76%),其中c.919-2A>G等位基因突变频率为5.0%(42/840),占所有等位基因碱基改变的68.85%(42/61),是SLC26A4的热点突变形式。 通过上述三种常见聋病基因的检测,为该地区回族耳聋人群的基因诊断、遗传咨询及治疗提供分子流行病学依据。
Other AbstractDeafness is the most significant cause of linguistic barrier, the causes of which including inherit(60-80%) and environmental factors. Nonsyndromic sensorineural hearing loss(NSHL) accounts for 70% in inherit factors.To date, the study showed that mitochondria DNA 12Sr RNA1555A>G, GJB2 and SLC26A4 gene are the most common deafness- related-genes of NSHL. Lots of studies proved that the mutation frequency and mutation pattern are disparate in different areas and races. Hui, the descendant of the Arabs, now more than half of which live in Northwest China. So far, there was no detailed research report about Hui ethnic group, in this study we collected 420 Hui NSHL patients to discuss the hot-spot mutation, frequency and the relation-ship betweem characteristic of genes mutation and origin of the hui nationality ,the results of which will provides the epidemiology basis on molecular etiology and genetic counseling for this population. Mitochondria DNA 12Sr RNA1555A>G mutation is the molecular etiology of aminoglycoside antibiotic-induced deafness(AAID), we analysis the clinical etiology of all patients. Genetic testing showed that 11(2.62%) cases were caused by m.1555A>G homozygous mutation in 420 patients with NSHL, 6 of whom had a specific history of AmAn(6/11=54.55%), and one case was doubtful. Therefore, there has a great significance of m. 1555A>G gene screening in order to prevent the deafness occurring in Hui population in Northwest China.At the same time ,we analysis the characteristic of GJB2 and SLC26A4 genes mutation in 420 Hui ethnic group patients with NSHL and draw the map of GJB2 gene mutation ,investigate the mutation frequency and forms of two genes. Results showed that 41(9.76%) cases,including homozygote and compound heterozygote,were caused by GJB2 gene mutation, which was the most frequent deafness-related gene.The allel frequency of c.235delC accounts for 6.90% ,as well as the most frequent(51.33%) mutational pattern in GJB2 gene.20 patients(4.76%) were found carring two allel mutations in SLC26A4 gene.The allel frequency of c.919-2A>G is 5.0%,accounts for a total of 68.85% in all base alterations of SLC26A4 gene,is the major mutant form of SLC26A4 gene. Through this study we can provide the molecular epidemiology basis for Hui ethnic group patients with NSHL from Northwest China in genetic diagnosis,genetic counseling and therapy by associated testing of the involved three genes.
URL查看原文
Language中文
Document Type学位论文
Identifierhttps://ir.lzu.edu.cn/handle/262010/222211
Collection学院待认领
Affiliation临床医学院
Recommended Citation
GB/T 7714
马建鹂. 中国西北地区回族非综合征型耳聋患者常见聋病[D]. 兰州. 兰州大学,2013.
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