Molecular analyses of in vivo hprt mutations in human T-lymphocytes: IV. Studies in newborns

Environ Mol Mutagen. 1989;14(4):229-37. doi: 10.1002/em.2850140404.

Abstract

In order to characterize in vivo gene mutations that occur during fetal development, molecular analyses were undertaken of mutant 6-thioguanine resistant T-lymphocytes isolated from placental cord blood samples of 13 normal male newborns. These mutant T-cells were studied to define hypoxanthine-guanine phosphoribosyltransferase (hprt) gene structural alterations and to determine T-cell receptor (TCR) gene rearrangement patterns. Structural hprt alterations, as shown by Southern blot analyses, occurred in 85% of these mutant clones. These alterations consisted mostly of deletion of exons 2 and 3. These findings contrast with the 10-20% of gross structural alterations (i.e., those visible on Southern blots) occurring randomly across the entire gene previously reported for T-cell mutants isolated from normal young adults. Iterative analyses of hprt structural alterations and TCR gene rearrangement patterns show that approximately one-third of the newborn derived mutants may have originated as pre- or intrathymic hprt mutations. This too contrasts with previous findings in adults where the background in vivo hprt mutations appeared to originate in postthymic T-lymphocytes.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Blotting, Southern
  • Chromosome Deletion
  • Clone Cells
  • DNA Probes
  • Fetal Blood
  • Gene Rearrangement, T-Lymphocyte*
  • Genes*
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / analysis
  • Hypoxanthine Phosphoribosyltransferase / genetics*
  • Infant, Newborn / blood*
  • Male
  • Mutation
  • Receptors, Antigen, T-Cell / analysis
  • Receptors, Antigen, T-Cell / genetics*
  • T-Lymphocytes / drug effects
  • T-Lymphocytes / enzymology*
  • T-Lymphocytes / ultrastructure
  • Thioguanine / pharmacology

Substances

  • DNA Probes
  • Receptors, Antigen, T-Cell
  • Hypoxanthine Phosphoribosyltransferase
  • Thioguanine