Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome

摘要

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 X