Carrier detection in X-pigmentary retinal dystrophy (X-linked retinitis pigmentosa) by DNA restriction fragment length polymorphism studies |
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| Authors: | J D Chen F B Halliday M J Denton |
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| Affiliation: | Division of Pathology, Prince of Wales Hospital, Randwick, NSW, Australia. |
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| 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. |
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