超越表型:在土耳其队列中探索遗传性视网膜疾病,以针对性的下一代测序
Busra Ozguc Caliskan1, Kubra Uslu1, Neslihan Sinim Kahraman2
1Faculty of Medicine, Department of Medical Genetics, Erciyes University, Kayseri, Turkey.
Clinical genetics
|April 5, 2024
概括
下一代测序 (NGS) 在58.1%的土耳其患者中发现了引起疾病的变异,这些患者患有遗传性视网膜疾病. 这项研究突出了ABCA4和USH2A等关键基因,有助于基因诊断和研究.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 医学诊断 医学诊断 医学诊断
背景情况:
- 遗传性视网膜疾病 (IRD) 代表了一组异质的遗传性疾病.
- 准确的基因诊断对于了解疾病机制和开发向疗法至关重要.
- 对受IRD影响的土耳其人口存在有限的遗传数据.
研究的目的:
- 收集土耳其IRD患者的临床和遗传数据.
- 评估针对性下一代测序 (NGS) 面板对诊断这些疾病的有效性.
- 确定土耳其人口中与IRD相关的流行基因和新型变异.
主要方法:
- 对354名具有IRD的土耳其试验人员 (2019-2022) 的回顾性分析.
- 在Illumina NextSeq-500上使用遗传性疾病解决方案 (HDS) 的向NGS.
- 使用Sophia DDM® SaaS和ACMG变种分类指南进行生物信息学分析.
主要成果:
- 在58.1%的研究队列中发现了引起疾病的变体.
- 最常涉及的基因是ABCA4,USH2A,RDH12和EYS. 这些基因是最常见的.
- 发现了48种新型变异,扩大了已知的IRDs遗传景观.
结论:
- 有针对性的NGS面板对于诊断土耳其患者的IRD有效.
- 这项研究提供了关于IRDs在这个人群中的遗传基础的宝贵见解.
- 这些发现有助于改善遗传视网膜疾病的临床管理和遗传咨询.
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