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Genetic analysis of phytosterolaemia

  • Published:
Journal of Inherited Metabolic Disease

Abstract

Two women with multiple xanthomas, intermittent arthritis and thrombocytopenia were diagnosed as phytosterolaemia, an autosomal-recessive lipid storage disease, based on their increased serum concentrations of β-sitosterol, campesterol and sitostanol. The gene responsible for this disease is located within a distance of 18 cM between microsatellite markers of D2S1788 and D2S1352 at chromosome 2p21. We genotyped the patients and their family members with 16 microsatellite markers around this locus. The results from the homozygosity mapping of one family suggested that the gene was located within the distance of 12.6 cM between D2S2328 and D2S1352. We have shortened the genetic distance by 5.4 cM.

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Authors and Affiliations

  1. Department of Internal Medicine, Japan

    M. Togo, K. Tsukamoto, H. Satoh, M. Hara, N. Iso-o, H. Noto & S. Kimura

  2. Department of Clinical Laboratory Medicine, Japan

    K. Nakahara & Y. Hashimoto

  3. Department of Physiological Chemistry and Metabolism, Graduate School of Medicine, The University of Tokyo, Tokyo

    L. A. Nguyen, S. Kubota & Y. Seyama

  4. Laboratory of Genome Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan

    T. Toda

Authors
  1. M. Togo
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  2. T. Toda
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  3. L. A. Nguyen
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  4. S. Kubota
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  5. K. Tsukamoto
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  6. H. Satoh
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  7. M. Hara
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  8. N. Iso-o
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  9. H. Noto
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  10. S. Kimura
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  11. K. Nakahara
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  12. Y. Seyama
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  13. Y. Hashimoto
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Togo, M., Toda, T., Nguyen, L.A. et al. Genetic analysis of phytosterolaemia. J Inherit Metab Dis 24, 43–50 (2001). https://doi.org/10.1023/A:1005650605042

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  • DOI: https://doi.org/10.1023/A:1005650605042

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