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全外因子测序揭示了马里听力障碍的已知和候选基因

Abdoulaye Yalcouyé¹, Isabelle Schrauwen², Oumou Traoré³

¹Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali; Division of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa; McKusick-Nathans Institute, and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA.

|December 12, 2024

概括

基因测试确定了马里家庭听力障碍 (HI) 的原因,揭示了已知的HI基因的新变体和一个新的候选基因UBFD1. 这项研究强调了非洲人口的遗传多样性.

科学领域:

遗传学是一个遗传学.
耳鼻喉科耳鼻喉科耳鼻喉科
神经科学是一个神经科学.

背景情况:

听力障碍 (HI) 是一个全球性的健康问题,尤其在低收入国家普遍存在.
在高收入国家,遗传因素占先天性HI的50%,但撒哈拉以南非洲的数据很少.
了解不同人群中HI的遗传基础对于诊断和治疗至关重要.

研究的目的:

调查马里人听力障碍的遗传原因.
识别与非综合征和综合征HI相关的已知和新型基因.
分析新型候选基因的基因表达和局部化.

主要方法:

在24个有HI的马里多个家庭中进行了全外组测序.
变异分析确定了已知的HI基因和新型候选基因中的突变.
cDNA被转移到HEK293T细胞中,用于候选基因UBFD1.1的表达和定位研究.

主要成果:

在75%的家庭 (18/24) 中发现了基因变异,其中94.4% (17/18) 与已知的HI基因有关.
在已知的HI基因中,59.1% (13/22) 发现了新型变异.
发现了一种新型候选基因UBFD1,在基于细胞的测试中表达减少,在人类内耳器官中表达减少.

结论:

这项研究为马里,撒哈拉以南非洲人口的听力障碍提供了有价值的遗传见解.
像MYO15A,CDH23和UBFD1这样的基因中的已知和新型遗传变异有助于该地区的HI.
在非洲人群中进一步发现基因对于全面了解听力损失遗传学至关重要.

关键词:

非洲非洲非洲马里马里马里马里在UBFD1候选基因中,添加剂映射绘制的混合物映射听力损伤听力损伤

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