摘要
视网膜色素变性(RP)是最常见的眼科遗传性疾病,以夜盲和视野狭窄为临床特征,具有高度遗传异质性。目前共报道67个致病基因,由于RP的致病基因多、遗传方式多样,基因诊断相对比较困难。随着新一代测序技术的发展,RP的基因诊断效率大大提高。本文力求回顾RP基因诊断技术的发展历程,介绍RP基因诊断的最新手段,并展望RP基因诊断技术的未来前景。
Retinitis pigmentosa （RP） is the most prevalent genetic disease in human eye with highly genetic heterogeneity. So far over 67 disease-causative genes have been identified, indicating the difficulty of genetic diagnosis for patients with RP. With the development of next-generation technologies, genetic diagnosis of RP was significantly improved. In this comment, we try to retrospectively review the landmarks and the progresses of RP genetics, and look to the future of the molecular diagnosis for RP.
出处
《分子诊断与治疗杂志》
2014年第1期1-9,共9页
Journal of Molecular Diagnostics and Therapy
基金
国家973课题(2013CB967502)
国家自然科学基金(81371059)
浙江省杰出青年科学基金(LR13H120001)
浙江省钱江人才计划B类(2012R10072)
关键词
视网膜色素变性
基因诊断技术
新一代测序
Retinitis pigmentosa
Genetic diagnosis
Next-generation sequencing
