Characterization of 108 Genomic DNA Reference Materials for 11 Human Leukocyte Antigen Loci: A GeT-RM Collaborative Project

Maria P. Bettinotti, Deborah Ferriola, Jamie L. Duke, Timothy L. Mosbruger, Nikolaos Tairis, Lawrence J Jennings, Lisa V. Kalman*, Dimitri Monos

*Corresponding author for this work

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

The highly polymorphic human leukocyte antigen (HLA) genes, located in the human major histocompatibility complex, encode the class I and II antigen-presenting molecules, which are centrally involved in the immune response. HLA typing is used for several clinical applications, such as transplantation, pharmacogenetics, and diagnosis of autoimmune disease. HLA typing is highly complex because of the homology of HLA genes and pseudogenes and the extensive polymorphism in the population. The Centers for Disease Control and Prevention established the Genetic Testing Reference Materials Coordination Program (GeT-RM) in partnership with the genetics community to improve the availability of genomic DNA reference materials necessary for quality assurance of genetic laboratory testing. The GeT-RM together with three clinical laboratories and the Coriell Cell Repositories have characterized genomic DNA obtained from a panel of 108 cell lines for all HLA classic polymorphic loci: HLA-A, B, C, DRB1, DRB3, DRB4, DRB5, DQA1, DQB1, DPA1, and DPB1. The goal was to develop a publicly available and renewable source of well-characterized genomic DNA reference materials to support molecular HLA typing assay development, validation, and verification, quality control, and proficiency testing. These genomic DNA samples are publicly available from the National Institutes of General Medical Science Repository at the Coriell Cell Repositories.

Original languageEnglish (US)
Pages (from-to)703-715
Number of pages13
JournalJournal of Molecular Diagnostics
Volume20
Issue number5
DOIs
StatePublished - Sep 1 2018

Fingerprint

Genetic Testing
HLA Antigens
DNA
National Institute of General Medical Sciences (U.S.)
Histocompatibility Antigens Class I
Pseudogenes
Pharmacogenetics
Histocompatibility Antigens Class II
Centers for Disease Control and Prevention (U.S.)
Major Histocompatibility Complex
Quality Control
Genes
Autoimmune Diseases
Transplantation
Cell Line
Population

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine

Cite this

Bettinotti, Maria P. ; Ferriola, Deborah ; Duke, Jamie L. ; Mosbruger, Timothy L. ; Tairis, Nikolaos ; Jennings, Lawrence J ; Kalman, Lisa V. ; Monos, Dimitri. / Characterization of 108 Genomic DNA Reference Materials for 11 Human Leukocyte Antigen Loci : A GeT-RM Collaborative Project. In: Journal of Molecular Diagnostics. 2018 ; Vol. 20, No. 5. pp. 703-715.
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Characterization of 108 Genomic DNA Reference Materials for 11 Human Leukocyte Antigen Loci : A GeT-RM Collaborative Project. / Bettinotti, Maria P.; Ferriola, Deborah; Duke, Jamie L.; Mosbruger, Timothy L.; Tairis, Nikolaos; Jennings, Lawrence J; Kalman, Lisa V.; Monos, Dimitri.

In: Journal of Molecular Diagnostics, Vol. 20, No. 5, 01.09.2018, p. 703-715.

Research output: Contribution to journalArticle

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