Wang D Y, Chan W M, Tam P O S, Chiang S W Y, Lam D S C, Chong K K L, Pang C P
Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 147K Argyle Street, Hong Kong.
Hong Kong Med J. 2005 Aug;11(4):281-8.
To review recent advances in the molecular genetics of retinitis pigmentosa with emphasis on the development of genetic markers that aids diagnosis and prognosis.
Literature search of MEDLINE from 1988 to 2005 using the following key words: 'retinitis pigmentosa', 'rhodopsin', 'RP1', 'RPGR', and 'genetic counseling'. References of two genes--RHO and RP1--causing retinitis pigmentosa in the Chinese population were reviewed.
Literature and data related to genetic markers for retinitis pigmentosa.
The genetics of retinitis pigmentosa is complex. It can be sporadic or familial, with heterogeneous transmission modes. Retinitis pigmentosa is associated with nearly 40 chromosomal loci, where 32 candidate genes have been identified. A large number of mutations are known to cause retinitis pigmentosa. But no single mutation alone accounts for more than 10% of unrelated retinitis pigmentosa patients. Genetic tests for retinitis pigmentosa require screening for a consort of mutations in a large number of genes. High throughput screening technology such as denaturing high performance liquid chromatography and automated DNA sequencing should make such tests feasible.
Rapid developments in the understanding of the genetics of retinitis pigmentosa have helped to establish genetic tests of clinical value. The complex mode of inheritance nonetheless makes genetic counselling difficult, even in the presence of positive genetic screening results.
综述视网膜色素变性分子遗传学的最新进展，重点关注有助于诊断和预后的遗传标记的发展。
使用以下关键词对1988年至2005年的MEDLINE进行文献检索：“视网膜色素变性”、“视紫红质”、“RP1”、“RPGR”和“遗传咨询”。回顾了在中国人群中导致视网膜色素变性的两个基因——RHO和RP1的参考文献。
与视网膜色素变性遗传标记相关的文献和数据。
视网膜色素变性的遗传学很复杂。它可以是散发性的或家族性的，具有多种遗传传递模式。视网膜色素变性与近40个染色体位点相关，已鉴定出32个候选基因。已知大量突变可导致视网膜色素变性。但没有一个单一突变能在超过10%的非相关视网膜色素变性患者中出现。视网膜色素变性的基因检测需要对大量基因中的一系列突变进行筛查。诸如变性高效液相色谱和自动化DNA测序等高通量筛查技术应使此类检测可行。
对视网膜色素变性遗传学认识的快速发展有助于建立具有临床价值的基因检测。然而，即使在基因筛查结果呈阳性的情况下，复杂的遗传模式仍使遗传咨询变得困难。
