遗传性耳聋

中国人群遗传性耳聋研究进展

The genetic deafness in Chinese population

耳聋是一种最常见的人类感觉系统缺陷，在已发现的遗传性耳聋中，有70%的属于非综合征型听力缺损。

Deafness is the most prevalent sensory system impairment in human , about 70 % of genetic deafness belongs to nonsyndromic hearing impairment .

西南地区母系遗传性耳聋家系的线粒体DNA分析

Mitochondrial DNA Mutations in Matrilineal Nonsyndromic Deafness Pedigrees of Southwest China

母系遗传性耳聋线粒体DNA突变分析

Mutational Analysis of Mitochondrial DNA in Familes with Maternally Inherited Hearing Loss

线粒体DNA突变与遗传性耳聋

Mitochondrial DNA mutation and hereditary hearing loss

遗传性耳聋生物芯片（HD生物芯片）作为体外诊断试剂，其检测结果在疾病预防、临床诊断、流行病学调查及产前筛查、新生儿筛查过程中起着非常重要的作用。

Hereditary deafness biochip ( HD biochip ), as an invitro diagnostic reagent , plays a very important role in disease prevention , clinical diagnosis , epidemiological investigation , prenatal screening and newborn screening .

目的分析伴前庭水管扩大（EVA）的遗传性耳聋患者SLC26A4基因的突变特点，探讨该病行人工耳蜗植入时应注意的问题。

Objective To probe the problems that should be paid attention to in cochlea implantation for inherited deafness patients with EVA and to detect the SLC26A4 gene mutation underlying the disease .

Y-连锁遗传性耳聋：中国一大家系的听力学表型特征

The Audiologic aspects in Chinese Y-linked hereditary hearing impairment pedigree

遗传性耳聋基因芯片检测及其临床意义

Analysis of deafness gene mutations by gene chip and its clinical significance

常染色体显性遗传性耳聋家系的遗传学特征分析

Genetic characteristic in pedigrees of autosomal dominant hereditary hearing loss

遗传性耳聋基因突变引起的听觉功能改变

Change of audio physiologic function caused by gene mutations in hereditary hearing loss

非综合征型遗传性耳聋基因的研究进展及相关网络资源

Nonsyndromic Hereditary Deafness Genes Research Progress and Related Databases

非综合征型遗传性耳聋两家系线粒体基因突变分析

Screening for mitochondrial DNA mutation in two pedigrees with nonsyndromic inherited sensorineural hearing loss

中国遗传性耳聋大家系永生细胞系的建立与保存

Establishment and preservation of immortal lymphoblastoid cell lines of the hereditary deafness in China

遗传性耳聋基因诊断技术的建立和初步临床应用

Establishment and initial clinic application of diagnosis techniques of genes of hereditary hearing loss

遗传性耳聋检测及风险分析

Detection and risk analysis of hereditary deafness

遗传性耳聋由遗传缺陷引起，与基因异常及相关的综合症关系密切，属临床常见疾病。

Hereditary hearing impairment is caused by genetic defects and is a common clinical disease .

另外一方面，上百种基因突变引起的遗传性耳聋目前没有治疗方法。

In addition mutations in hundreds of genes cause inherited deafness for which no intervention is available .

目的利用同源性分析，克隆定位新的人类间隙连接蛋白基因，并探讨该基因和遗传性耳聋的关系。

Objective To clone a novel human connexin gene and find out the relationship between this gene and hereditary deafness .

目的进行Y-连锁遗传性耳聋（DFNY1）家系的听力学表型特征分析。

Objective The purpose of this research was to analyze the audiologic aspects in Chinese Y-linked hereditary hearing impairment pedigree .

目的：建立一种能实用于临床应用的检测技术，以解决遗传性耳聋基因诊断这一难题。

Objective : To establish an applied diagnosis technique for clinic use in order to resolve the problem of gene diagnosis of hereditary heating loss .

随着遗传学的发展，逐渐衍生出一些基因诊断手段，然而这些方法无法同时具备高通量、覆盖面广、低成本、高准确性的特征，因此对遗传性耳聋的基因诊断需要进行革命性的改革。

Gene diagnostic tools are derived with the development of genetics . However , these methods are not characterized by high-throughput , wide coverage , low-cost and high-accuracy .

结论应用基因检测方法可以在地区性耳聋流行病学调查中帮助明确常见的遗传性耳聋病例，并可指导此类患者的家庭进行耳聋的预防。

Conclusion Genetic testing methods can be used to diagnose hereditary hearing loss in an epidemiologic study in order to instruct the families how to prevent occurrence of deafness .

据估计非综合征型遗传性耳聋基因总数在100个以上，目前已经确定了近80个非综合征型遗传性耳聋的遗传位点，其中23个基因已经被成功克隆。

It was estimated that the total number of genes involved in nonsyndromic hereditary deafness was over 100 . So far , approximate 80 loci have been mapped to human chromosome , and 23 genes have been identified .

目的：探讨中国人遗传性耳聋基因的突变热点和明确我们最近收集到的一个遗传性耳聋家系是否为已克隆的耳聋基因的突变所致。

Objective : To make a further exploration of the mutation frequence of Chinese genetic deafness and make clear if the genetic deafness genealogy that we collected recently was resulted from the mutation of the deafness genes which had been cloned .

一个遗传性传导性耳聋家系的病因及治疗

Pathogeny and Therapy of a Genetic Conductive Hearing Loss Genealogy

因为遗传性的耳聋所以不能说话。

Unable to speak because of hereditary deafness .

遗传性的耳聋是白猫巨大的顾虑，尤其是一只或者两只眼睛都是蓝色的猫。

Hereditary deafness is a major concern in white cats , and even more so if one or both irises are blue in color .

目的分析遗传性血尿肾病耳聋综合征（Alportsyndrome，As）病人的听功能改变特点，畸变产物耳声发射（DPOAEs）测试的意义。

Objective To analyze the altered features of auditory functions of hereditary nephritis-nerve deafness syndrome ( Alport syndrome , As ) patients and the significance of distortion product otoacoustic emissions ( DPOAEs ) test .

Waardenburg综合症（Waardenburgsyndrome，WS）是最常见的常染色体显性遗传性综合征型耳聋，根据临床特征分为4型（WS1-4）。

Waardenburg syndrome ( WS ) is the most common autosomal dominant inherited disorder in syndromic hearing loss and is classified into four types ( WS1-4 ) depending on clinical features .