Summary
Norrie disease (ND) is an X-linked recessive disorder with congenital blindness (atrophia bulborum hereditaria, pseudoglioma). Six kindreds segregating for ND were studied for linkage with polymorphic markers of the human X chromosome. No recombination was observed between the ND-locus (NDP) and the DXS7 locus, the latter followed as a DNA-restriction fragment length polymorphism, detected by the recombinant DNA probe L1.28, and assigned to the region Xp11.2–Xp11.3. The maximum lod scores are \(\hat z = 3.81\) at \(\hat \theta = 0.00\). Linkage data between NDP and the other genetic markers used in the present study are in keeping with this assignment of the mutation to the proximal Xp.
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Bleeker-Wagemakers, L.M., Friedrich, U., Gal, A. et al. Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome. Hum Genet 71, 211–214 (1985). https://doi.org/10.1007/BF00284575
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DOI: https://doi.org/10.1007/BF00284575