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Updated: Jun 23, 2026

Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes
08:35

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Published on: July 17, 2021

Development of a fingerprinting panel using medically relevant polymorphisms.

Deanna S Cross1, Lynn C Ivacic, Catherine A McCarty

  • 1Center for Human Genetics, Marshfield Clinic Research Foundation, 1000 N, Oak Avenue, Marshfield, WI, USA. cross.deanna@mcrf.mfldclin.edu

BMC Medical Genomics
|April 22, 2009
PubMed
Summary
This summary is machine-generated.

A new panel of 36 common disease-associated polymorphisms and a sex marker uniquely identifies individuals in large biorepositories. This quality control assay ensures sample integrity for genetic studies.

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Area of Science:

  • Genetics
  • Biobanking
  • Quality Assurance

Background:

  • Population-based biorepositories require rigorous quality control for data integrity.
  • A panel of 36 common disease-associated polymorphisms plus a sex marker was developed for individual sample identification.
  • This panel uniquely identifies approximately 20,000 samples and scales for over 100 million samples.

Purpose of the Study:

  • To design and validate a robust polymorphism panel for unique individual sample identification in biorepositories.
  • To ensure the quality and integrity of samples within large-scale population-based biobanks.

Main Methods:

  • A panel of polymorphisms with a minor allele frequency of ≥0.20 in European Caucasians and associated with diseases was selected.
  • The assay was validated using MALDI-TOF mass spectrometry on the Sequenom platform, comparing results to known genotypes.
  • Polymorphisms not in Hardy Weinberg equilibrium were excluded, and allele frequencies were compared to dbSNP.

Main Results:

  • The final assay includes the AMG sex marker and 36 medically relevant polymorphisms, represented on common genotyping platforms.
  • The validated assay achieves a P(ID) of 6.132 x 10⁻¹⁵ and Psib(ID) of 3.077 x 10⁻⁸, ensuring unique identification.
  • The panel represents common diseases like cancer, heart disease, diabetes, obesity, and respiratory disease.

Conclusions:

  • The developed polymorphism panel is compatible with various genotyping platforms, offering flexible quality assurance and control (QA/QC).
  • This panel serves as a valuable resource for researchers studying population-based disease effects, especially common diseases.