遗传性视网膜疾病的基因诊断

Genetic diagnosis of hereditary retinal diseases

遗传性视网膜疾病具有高度的临床和遗传学异质性。单纯临床诊断对患者的病因缺少针对性信息,通过基因诊断来明确突变基因对于遗传咨询和基因治疗尤为重要。传统的基因检测技术主要包括连锁分析、直接测序法(Sanger测序)以及DNA芯片技术。新一代测序技术(next generation sequencing,NGS)兴起后已成功用于多种遗传性视网膜疾病的研究,提高了分子遗传诊断效率,降低了成本。目前我国在遗传性视网膜疾病基因诊断方面应增加人力资源培养与资金投入,制定可行的行业规范,尽早使基因诊断平台服务于临床。

Inherited retinal diseases are a group of blindness disease with high clinical and genetic heterogeneity. Clinical diag- nosis cannot provide enough information for etiology, treatment and prognosis. Genetic diagnosis, by identifying the disease-causing mu- tation, is very important for genetic counseling and proper therapy. Traditional genetic testing techniques include linkage analysis, direct sequencing （Sanger sequencing） and DNA chip technology. Recently, next generation sequencing （NGS） has been successfully applied to a variety of retinal disease researches, which improved the molecular diagnostic rate and reduced time and cost. Genetic diagnosis of hereditary retinal diseases in China is in the early stage. Funding support, specialized personnel and professional standards are essential for an ideal clinical diagnostic platform.