title: Simultaneous quantification of t(14;18) and HPRT exon 2/3 deletions in human lymphocytes.
abstract: Specific recurring chromosomal translocations and deletions are found in a variety of cancers. In hematopoietic malignancies, many of these chromosomal aberrations result from mistakes involving V(D)J recombination. V(D)J recombination is required for the formation of functional T-cell receptor genes in T-cells and antibody genes in B-cells. This is an inherently dangerous process, however, because double-strand breaks are introduced into the chromosomes. Molecular evidence indicates that failure of the fidelity of this process results in the activation of proto-oncogenes or the inactivation of tumor-suppressor genes. Here we describe sensitive, quantitative PCR assays for the measurement of such events in human lymphocytes. One assay measures the frequency of t(14;18) translocations that result in the dysfunctional regulation of the anti-apoptotic gene BCL-2. The other assay measures the frequency of a deletion caused by illegitimate V(D)J recombination in the X-linked HPRT gene. The findings and conclusions presented in this article are the author's and do not necessarily reflect those of the Food and Drug Administration.
authors.affiliation: Division of Systems Biology, National Center for Toxicological Research, U.S. Food and Drug Administration, HFT-130, Jefferson, AR, 72079, USA, jfuscoe@nctr.fda.gov.
authors.forename: James C
authors.initials: JC
authors.lastname: Fuscoe
mesh_terms: D001483:Base Sequence; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D013601:T-Lymphocytes / Q000502:physiology; D014178:Translocation, Genetic; D060152:V(D)J Recombination
chemical_list: D017931:DNA Primers; D007041:Hypoxanthine Phosphoribosyltransferase