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      Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31.

      Nature genetics
      Chromosome Mapping, Chromosomes, Human, Pair 1, Female, Genes, Dominant, Genetic Markers, Glaucoma, Open-Angle, genetics, Humans, Lod Score, Male, Pedigree, Polymorphism, Genetic, Receptors, Atrial Natriuretic Factor, Repetitive Sequences, Nucleic Acid

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          Abstract

          Glaucoma is a significant cause of blindness world wide. There is evidence to suggest that at least a subset of the disease is determined genetically. We studied 37 members of a family affected with an autosomal dominant form of juvenile open angle glaucoma and 22 were found to be affected. Linkage analysis using short tandem repeat markers mapped the disease-causing gene to chromosome 1q21-q31. Eight markers were significantly linked (Zmax > 3.0) to the disease, with the highest lod score 6.5 (theta = 0), provided by D1S212. The atrial natriuretic peptide (ANP)/receptor system has been proposed to have a role in glaucoma and one of the ANP receptor genes maps to chromosome 1q.

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              Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.

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