通过DNA限制性片段长度多态性研究对X连锁性视网膜色素变性（X-连锁视网膜色素变性）进行携带者检测。

Carrier detection in X-pigmentary retinal dystrophy (X-linked retinitis pigmentosa) by DNA restriction fragment length polymorphism studies.

作者信息

Chen J D, Halliday F B, Denton M J

机构信息

Division of Pathology, Prince of Wales Hospital, Randwick, NSW, Australia.

出版信息

Aust N Z J Ophthalmol. 1988 May;16(2):67-74. doi: 10.1111/j.1442-9071.1988.tb01252.x.

DOI:10.1111/j.1442-9071.1988.tb01252.x

PMID:2902867

Abstract

As part of a patient care and DNA research programme commenced in 1985, a number of DNA markers on the short arm of the X chromosome have been used to demonstrate restriction fragment length polymorphisms (RFLPs) segregating with the X-pigmentary retinal dystrophy (X-linked retinitis pigmentosa) gene. The analysis of the segregation of the RFLPs in 3 kindreds enables carrier detection, to a high degree of probability, in females at risk who are not manifesting symptoms and signs.

摘要

作为1985年启动的一项患者护理与DNA研究项目的一部分，X染色体短臂上的一些DNA标记已被用于证明与X连锁视网膜色素变性基因相关的限制性片段长度多态性（RFLP）的分离情况。对3个家族中RFLP分离情况的分析能够在很大概率上对未表现出症状和体征的高危女性进行携带者检测。