Summary
In a pedigree with X-linked retinitis pigmentosa, one recombination was observed between the pigmentosa locus and the locus for the Xg blood groups. Two examples of recombination were found between the loci for pigmentosa and deuteranomaly. An investigated carrier for retinitis pigmentosa had no fundus abnormalities similar to those reported in such heterozygotes. Together with the information from other families described in the literature, it seems likely that the 3 loci, that for retinitis pigmentosa, for color vision and for Xg blood groups, are well spread out on the X chromosome.
Zusammenfassung
In einer Sippe mit X-chromosal vererbter Retinopathia pigmentosa wurde eine Rekombination beobachtet zwischen den Genorten, die für die Netzhautdegeneration und für die Xg-Blutgruppen verantwortlich sind. Zwei Rekombinationen wurden gefunden für die Genorte, die Netzhautdegeneration und Deuteranomalie bestimmen. In Zusammenhang mit anderen, in der Literatur mitgeteilten Sippen scheinen die Genorte für Retinopathia pigmentosa, Farbensehen und Xg-Blutgruppen auf dem X-Chromosom weit verstreut zu liegen. Eine für das Netzhautleiden heterozygote Konduktorin zeigte keine Fundusauffälligkeiten, wie sie bisher bei solchen Personen beschrieben worden sind.
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From the University Hospital, Department of Ophthalmology, University of Iowa College of Medicine. Presented at the Third International Congress of Neuro-Genetics and Neuro-Ophthalmology, Brussels 1970. Supported in part by USPHS Grant No. 9 P15 EY 00117-03 from the National Eye Institute.
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Grützner, P., Sanger, R. & Spivey, B.E. Linkage studies in X-linked retinitis pigmentosa. Humangenetik 14, 155–158 (1972). https://doi.org/10.1007/BF00273301
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DOI: https://doi.org/10.1007/BF00273301