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Tangier disease: Heterozygote detection and linkage analysis

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Summary

A large partially inbred kindred segregating Tangier disease is analyzed for linkage to seventeen informative markers. Three criteria were developed to classify heterozygotes and each criterion's validity was subsequently evaluated by assessing the pedigree distribution of diagnoses for internal consistency. The results of the linkage analysis, while varying with the diagnostic criterion used, yield no evidence of linkage to any of the markers studied. Tight linkage (<5 cM) to RH, MNSS, GPT, and GLO is ruled out by all criteria.

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Authors and Affiliations

  1. Department of Psychiatry, Washington University School of Medicine, 216 South Kingshighway, 63110, St. Louis, Missouri, USA

    Brian K. Suarez

  2. Department of Genetics, Washington University School of Medicine, 216 South Kingshighway, 63110, St. Louis, Missouri, USA

    Brian K. Suarez

  3. The Jewish Hospital of St. Louis, 216 South Kingshighway, 63110, St. Louis, Missouri, USA

    Brian K. Suarez

  4. Department of Medicine, Washington University School of Medicine, 63110, St. Louis, MO, USA

    Gustav Schonfeld

  5. Department of Preventive Medicine, Washington University School of Medicine, 63110, St. Louis, MO, USA

    Gustav Schonfeld

  6. the Lipid Research Center, Washington University School of Medicine, 63110, St. Louis, MO, USA

    Gustav Schonfeld

  7. Department of Medicine, UCLA Center for the Health Sciences, 90024, Los Angeles, CA, USA

    Robert S. Sparkes

  8. Department of Pediatrics and Psychiatry, UCLA Center for the Health Sciences, 90024, Los Angeles, CA, USA

    Robert S. Sparkes

Authors
  1. Brian K. Suarez
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  2. Gustav Schonfeld
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  3. Robert S. Sparkes
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Suarez, B.K., Schonfeld, G. & Sparkes, R.S. Tangier disease: Heterozygote detection and linkage analysis. Hum Genet 60, 150–156 (1982). https://doi.org/10.1007/BF00569702

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  • DOI: https://doi.org/10.1007/BF00569702

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