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

✍ Scribed by Liesbeth M. Bleeker-Wagemakers; Ursula Friedrich; A. Gal; T. F. Wienker; Mette Warburg; H. -H. Ropers

Publisher: Springer
Year: 1985
Tongue: English
Weight: 346 KB
Volume: 71
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00284575

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✦ Synopsis

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 zeta = 3.81 at 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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