CARRIER DETECTION IN X‐PIGMENTARY RETINAL DYSTROPHY (X‐LINKED RETINITIS PIGMENTOSA) BY DNA RESTRICTION FRAGMENT LENGTH POLYMORPHISM STUDIES

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.