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Related Experiment Videos

Apolipoprotein E genotyping: accurate, simple, high throughput method using ABI Prism SNaPshot Multiplex System.

Liat Ben-Avi1, Ronen Durst, Shoshi Shpitzen

  • 1Center for Research, Prevention, and Treatment of Atherosclerosis, Department of Medicine B, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem.

Journal of Alzheimer'S Disease : JAD
|October 27, 2004
PubMed
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Clinical genetics·2025

This study introduces a new, simple method for identifying apolipoprotein E (apo E) isoforms, crucial for understanding cardiovascular and Alzheimer's disease risks. The technique offers a reliable way to genotype apo E in large clinical sample sets.

Area of Science:

  • Genetics
  • Biochemistry
  • Molecular Biology

Background:

  • Apolipoprotein E (apo E) is vital for lipoprotein metabolism and its gene polymorphisms influence cardiovascular and Alzheimer's disease risks.
  • Existing methods for determining apo E isoforms have limitations, including disadvantages and ambiguities.
  • Accurate apo E genotyping is essential for clinical diagnostics and research.

Purpose of the Study:

  • To develop and validate an improved, multiplex method for simultaneous genotyping of apo E single nucleotide polymorphisms (SNPs).
  • To enhance a commercially available primer extension protocol (SNaPshot) for apo E isoform determination.
  • To provide a simple, reliable, and high-throughput method for apo E genotyping.

Main Methods:

  • Adaptation of the SNaPshot multiplex assay for simultaneous typing of apo E SNPs at codons 112 and 158.

Related Experiment Videos

  • Utilizing primer extension with fluorescent dideoxyNTPs (minisequencing) followed by analysis on an ABI PRISM 310 DNA sequencer.
  • Pooling primers for both apo E SNPs in a single minisequencing reaction.

    • Main Results:

    • The developed method demonstrated full concordance with genotypes determined by universal heteroduplex analysis.
    • The protocol successfully and simultaneously typed apo E SNPs encoding for isoforms at codons 112 and 158.
    • The technique proved to be simple, unequivocal, and easy to use.

    Conclusions:

    • The improved multiplex automated primer extension assay offers a significant advancement for apo E genotyping.
    • This method is suitable for large-scale clinical sample analysis and readily adoptable by many laboratories.
    • The technique provides a reliable and efficient alternative to existing methods for determining apo E isoforms.