遗传性耳聋有高度的遗传异质性。
随着人类基因组计划的顺利完成,关于遗传性耳聋方面的研究取得了卓越的成就。
With the project of human genome being completed, there has been remarkable progress being made on hereditary hearing loss.
简要介绍了遗传性耳聋的分类以及利用致病基因特点和家系信息进行概率分析的方法。
Presented in this paper are classification of hereditary hearing impairment and methods to perform probability analysis using features of pathogenic genes and information of pedigree.
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.
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.
目的分析伴前庭水管扩大(eva)的遗传性耳聋患者SLC26 A 4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.
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.
名为Alport综合征的遗传性肾炎。病人通常表现为神经性耳聋及眼病。
This is a type of hereditary nephritis known as Alport's syndrome in which patients may also manifest nerve deafness and eye problems.
目的探讨母系遗传性非综合征性耳聋的听力学特征及分子遗传学机制。
Objective To explore audiological features of matrilineal non syndromic deafness and its molecular mechanism.
目的探讨母系遗传性非综合征性耳聋的听力学特征及分子遗传学机制。
Objective To explore audiological features of matrilineal non syndromic deafness and its molecular mechanism.
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