遗传性视网膜疾病的分子诊断进展和重要性

The development and importance of molecular diagnosis in hereditary retinal diseases

遗传性视网膜疾病（HRD）是一组临床常见的原发性视网膜退行性疾病，可严重影响视功能甚至致盲。探索HRD分子遗传学病因，开发先进可行的HRD分子诊断技术是降低HRD群体发病率并寻找治疗手段的必要前提。HRD具有显著的临床和遗传异质性，大量的致病基因和传统技术的局限性严重阻碍了对HRD分子遗传学病因的深人研究。目标序列捕获测序是将目标序列捕获j占片和高通量二代测序技术相结合，对海量基因片段进行平行测序，从而完成对目标基因序列的测序，有传统技术无法比拟的优势。基于目标序列捕获测序所开发的HRD分子诊断平台将大大提高我国HRD患者致病基因的检出率，深入探索HRD的分子遗传学病因，了解其发病机制，辅助临床诊断、产前诊断，推动我同分子诊断体系的快速发展，并为转基因治疗提供重要依据。

Hereditary retinal disease （HRD） is a group of retina[ degenerations seen frequently at clinic, which can lead to severe visual impairments or even blindness. Identifying genetic causes and developing advanced and applicable molecular diagnostic tools for HRD is essential to lower the prevalence of HRD, and to find the therapeutic method of HRD. HRD is known to be both clinically and genetically heterogeneous. The large number of causative genes together with the limitation of routine technique hinder the investigators from further investigating the genetic cruises of HRD. Targeted genes capture with next- generation high throughput sequencing yield high sensitivity and speed for mutation detection. When compared with traditional techniques, targeted sequencing presents tremendous advantages. Therefore, the development of a powerful molecular diagnostic platform for HRD aims to improve the detection rate of causative genes/mutations in HRD patients, to further investigate the genetic causes for HRD, to better understand the pathological basis of HRD, and to promote the fast development of molecular diagnosis in China. Meanwhile, it will have significance tbr the clinical and prenatal diagnosis of HRD, and thus providing rationale for gene therapy on HRD.