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UNIT 9.14 Genotyping of Apolipoprotein E: Comparative Evaluation of Different Protocols

  1. Martin Ingelsson1,
  2. Youngah Shin1,
  3. Michael C. Irizarry1,
  4. Bradley T. Hyman1,
  5. Lena Lilius2,
  6. Charlotte Forsell2,
  7. Caroline Graff2

Published Online: 1 NOV 2003

DOI: 10.1002/0471142905.hg0914s38

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Ingelsson, M., Shin, Y., Irizarry, M. C., Hyman, B. T., Lilius, L., Forsell, C. and Graff, C. 2003. Genotyping of Apolipoprotein E: Comparative Evaluation of Different Protocols. Current Protocols in Human Genetics. 38:9.14:9.14.1–9.14.13.

Author Information

  1. 1

    Harvard Medical School/Massachusetts General Hospital, Charlestown, Massachusetts

  2. 2

    Karolinska Institutet, Stockholm, Sweden

Publication History

  1. Published Online: 1 NOV 2003
  2. Published Print: JUL 2003


Disease-associated gene polymorphisms provide both scientific insight into pathophysiological mechanisms and clinical information regarding risk and progression. Of special interest is the ɛ4 allele of the apolipoprotein E gene, which has emerged as a substantial risk factor for late-onset forms of Alzheimer disease and also influences the risk of cardiovascular disease. Genotyping of apolipoprotein E can be performed by several methods; presented here are a quality and cost-benefit analysis of four different protocols on a cohort of 42 clinical samples is included in the unit. Each method resulted in genotyping with a high sensitivity and specificity. The newer microtiter-plate-based high-throughput techniques, fluorescence polarization and SNaPshot analysis, were as reliable as the traditional techniques of restriction fragment length polymorphism analysis and reverse hybridization. The reverse hybridization method tends to be more cost- and time-effective when the number of analyses is limited, although economy of scale favors fluorescence polarization or SNaPshot analysis in larger studies. The latter approaches also provide the flexibility to investigate other polymorphic disease markers.


  • neurodegenerative diseases;
  • apolipoprotein E;
  • single nucleotide polymorphisms;
  • genotyping;
  • high-throughput analysis