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      High-resolution SNP map of ASPN, a susceptibility gene for osteoarthritis.

      Journal of human genetics
      Carrier Proteins, genetics, Chromosomes, Human, Pair 9, DNA Primers, Extracellular Matrix Proteins, Gene Components, Gene Frequency, Genetic Predisposition to Disease, Haplotypes, Humans, Japan, Osteoarthritis, Polymorphism, Single Nucleotide, Sequence Analysis, DNA

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          Abstract

          Osteoarthritis (OA) is a very common bone and joint disease characterized by breakdown of cartilage in the joint. We recently found that an aspartic-acid repeat polymorphism of the asporin gene (ASPN) on chromosome 9 is associated with susceptibility to OA in Japanese. We provide here a high-resolution single nucleotide polymorphism (SNP) map within a 33.4-kb genomic region containing ASPN. A total of 19 SNPs were isolated from the region by systematic screening using 48 Japanese patients with OA: 7 SNPs in the 5' flanking region, 8 in introns, and 4 in the 3' untranslated region. Nine SNPs were novel. This high-resolution SNP map will be a useful resource for analyzing genes associated with OA and other bone and joint diseases.

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