CARRIER DETECTION IN X‐PIGMENTARY RETINAL DYSTROPHY (X‐LINKED RETINITIS PIGMENTOSA) BY DNA RESTRICTION FRAGMENT LENGTH POLYMORPHISM STUDIES
- 1 May 1988
- journal article
- research article
- Published by Wiley in Australian and New Zealand Journal of Ophthalmology
- Vol. 16 (2) , 67-74
- https://doi.org/10.1111/j.1442-9071.1988.tb01252.x
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.Keywords
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