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Related Experiment Videos

Haplotype Counting for Sensitive Chimerism Testing: Potential for Early Leukemia Relapse Detection.

Marija Debeljak1, Evelina Mocci2, Max C Morrison1

  • 1Department of Pathology, Johns Hopkins University, Johns Hopkins Medical Institutions, Baltimore, Maryland.

The Journal of Molecular Diagnostics : JMD
|April 24, 2017
PubMed
Summary

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Haplotype counting, a novel DNA testing method, offers ultrasensitive detection for human identity testing. This approach identifies early signs of transplant rejection and disease relapse, outperforming traditional microsatellite analysis.

Area of Science:

  • Genetics
  • Forensic Science
  • Immunology

Background:

  • Human identity testing, crucial for forensics, transplantation, and paternity, traditionally uses microsatellite amplification and capillary electrophoresis.
  • An alternative method, haplotype counting, leverages multiple single-nucleotide polymorphisms (SNPs) within a small DNA region for potentially improved accuracy.

Purpose of the Study:

  • To validate novel polymorphic loci for haplotype counting.
  • To assess the utility of haplotype counting for ultrasensitive detection in clinical and forensic applications, particularly in bone marrow transplantation.

Main Methods:

  • Validation of seven additional polymorphic loci and sequencing of 45 individuals from three 1000 Genomes populations.
  • Development of a multiplex PCR assay amplifying five novel loci simultaneously.

Related Experiment Videos

  • Application of haplotype counting in a cohort of leukemic patients undergoing allogeneic bone marrow transplantation to define a detection threshold for recipient DNA.

    • Main Results:

    • Characterization of haplotypes, heterozygosity, and polymorphic information content for the validated loci.
    • Detection of increased recipient DNA above a 0.26% threshold in four out of eight patients (50%) 90-145 days earlier than microsatellite positivity.
    • Earlier detection of relapse indicators compared to conventional methods in a subset of patients.

    Conclusions:

    • Haplotype counting with novel loci provides a sensitive method for human identity testing.
    • This technique shows promise for early detection of bone marrow transplant complications, solid organ transplant rejection, and in forensic applications.
    • Further validation in larger cohorts is necessary to confirm the clinical utility of the proposed threshold.