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非综合征性听力损失中的基因多态性:一项系统综述。

Gene-Polymorphism in Non - Syndromic Hearing Loss: A Systematic Review.

作者信息

Balunathan Nandhini, Nair Shital S, Kumar Simon Roshan

机构信息

Department of Human Genetics, Sri Ramachandra Institute of Higher Education and Research (DU), Chennai, 600116 India.

Department of Audiology, Sri Ramachandra Faculty of Audiology and Speech Language Pathology (SRFASLP), Sri Ramachandra Institute of Higher Education and Research, (DU), Chennai, 600116 India.

出版信息

Indian J Otolaryngol Head Neck Surg. 2025 Apr;77(4):1981-1986. doi: 10.1007/s12070-025-05391-x. Epub 2025 Feb 27.

Abstract

Hearing loss that happens alone, without other related physical or developmental issues, is known as non-syndromic hearing loss (NSHL). About 70% of instances of hereditary hearing impairment are of this kind, making it the most prevalent type of genetic hearing loss. There are three possible inheritance patterns for the condition: autosomal dominant, autosomal recessive, and X-linked. The most common type is autosomal recessive. Studies have shown a large number of genes implicated in the auditory system, and genetic variables are important in the development of NSHL. These comprise genes encoding elements of the central auditory circuits, auditory nerve, and cochlea. Hearing loss can result from a number of mutations or polymorphisms (differences in the DNA sequence) in various genes, ranging from mild to profound. Thus several studies showing different gene involved, a systematic review is needed. Two databases PubMed (medicine) and Google scholar, as the main literature source and performed literature searches using relatively mature search formula. Based on the inclusion and exclusion criteria, after screening 150 articles, 12 articles were selected and reviewd for the study. The results demonstrate that NSHL is largely caused by genetic alterations, with some polymorphisms being more common in particular populations. For instance, GJB2-related mutations are uncommon in sub-Saharan Africa, where other genetic variables probably prevail, but they are noticeably widespread in Asian and Caucasian populations.

摘要

单独发生且无其他相关身体或发育问题的听力损失被称为非综合征性听力损失(NSHL)。遗传性听力障碍病例中约70%属于这种类型,使其成为最常见的遗传性听力损失类型。该病症有三种可能的遗传模式:常染色体显性遗传、常染色体隐性遗传和X连锁遗传。最常见的类型是常染色体隐性遗传。研究表明,大量基因与听觉系统有关,遗传变量在NSHL的发展中很重要。这些基因包括编码中枢听觉回路、听神经和耳蜗元件的基因。听力损失可能由各种基因中的多种突变或多态性(DNA序列差异)引起,程度从轻到重不等。因此,鉴于多项研究显示涉及不同的基因,需要进行系统综述。以两个数据库PubMed(医学)和谷歌学术作为主要文献来源,并使用相对成熟的检索公式进行文献检索。根据纳入和排除标准,在筛选150篇文章后,选择了12篇文章进行本研究的综述。结果表明,NSHL很大程度上是由基因改变引起的,一些多态性在特定人群中更为常见。例如,与GJB2相关的突变在撒哈拉以南非洲并不常见,那里可能存在其他遗传变量,但在亚洲和白种人群体中明显更为普遍。

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