title: Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.
abstract: 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.
mesh_terms: D000293:Adolescent; D002503:Centromere; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D005808:Genes, Recessive; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D012163:Retinal Detachment / Q000151:congenital / Q000235:genetics*; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D004247:DNA; D004262:DNA Restriction Enzymes