Molecular genetic diagnosis in X chromosome-linked retinitis pigmentosa |
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Authors: | T Hogenkamp T F Wienker F Majewski A Gal |
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Affiliation: | Institut für Humangenetik der Universit?t Bonn. |
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Abstract: | Retinitis pigmentosa (RP) is the most common hereditary dystrophic disease of the retina. About 10% of the affected families show the X-linked trait. The close link observed between the gene locus (RP2) and a polymorphic DNA marker (DXS7) on the proximal short arm of the X-chromosome permits an indirect genotype diagnosis and can be helpful in carrier detection and genetic counseling. A case is presented in which the carrier risk of a female consultant dropped from 50% a priori to less than 2% by the use of clinical findings and DNA analysis. |
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