Abstract：
Mouse models are used extensively to understand human pathobiology and mechanistic functions of disease-associated loci. However, in this review, we investigate the potential of using genetic mouse models to identify genetic markers that can disrupt hearing thresholds in mice and then target the hearing-enriched orthologues and loci in humans. Currently, little is known about the real prevalence of genes that cause hearing impairment (HI) in Africa. Pre-screening mouse cell lines to identify orthologues of interest has the potential to improve the genetic diagnosis for HI in Africa to a significant percentage, for example, 10-20%. Furthermore, the functionality of a candidate gene derived from mouse screening with heterogeneous genetic backgrounds and multi-omic approaches can shed light on the molecular, genetic heterogeneity and plausible mode of inheritance of a gene in hearing-impaired individuals especially in the absence of large families to investigate.
摘要：
小鼠模型被广泛用于了解人类病理生物学和疾病相关基因座的机制功能。然而,在这次审查中,我们研究了使用遗传小鼠模型来鉴定可以破坏小鼠听力阈值的遗传标记，然后靶向人类听力富集的直系同源物和基因座的潜力。目前,在非洲，人们对导致听力障碍（HI）的基因的真正流行知之甚少。预筛选小鼠细胞系以鉴定感兴趣的直系同源物，有可能将非洲HI的遗传诊断提高到相当大的百分比，例如,10-20%。此外，来自具有异质遗传背景和多体方法的小鼠筛选的候选基因的功能可以揭示分子，听力受损个体的遗传异质性和基因遗传的合理模式，尤其是在没有大家庭的情况下。
