A new T-lymphocyte cloning assay for detection of in vivo mutations in the human hypoxanthine-guanine phosphoribosyltransferase gene

Environ Mol Mutagen. 1997;30(1):31-9.

Abstract

The X-linked hypoxanthine-guanine phosphoribosyl transferase (hprt) gene is a target of analyses of in vivo mutation frequencies in circulating T-lymphocytes. We established a novel, accessory cell-free cloning method of T-lymphocytes with a hprt mutation by a combined use of recombinant interleukin-2, conditioned medium from activating T-lymphocytes and culture plates coated with anti-CD3 monoclonal antibody. Using the method, we examined mutation frequencies of the hprt gene in T-lymphocytes from six healthy individuals, nine patients with colon cancer including two patients from different families with hereditary nonpolyposis colon cancer and six cancer-free relatives of the patients. In six healthy individuals, the mean cloning efficiency and mutation frequency (MF) of the hprt gene in T-lymphocytes were 0.51 +/- 0.28 and 9.4 +/- 7.5 x 10(-6), respectively. These data were similar to the reported values. The mean MFs in the nine colon cancer patients (10.6 +/- 7.3 x 10(-6)) were not significantly different from those of the 12 cancer-free individuals (11.6 +/- 9.4 x 10(6)). The correlation between mutation frequencies and age of the individuals was significant regardless of the presence or absence of cancers. The single-strand conformation polymorphism analyses of nested RT-PCR products of hprt mRNA were done in 33 mutant clones from five members of a family of which MF values were high. All the analyzed mutant clones show a genetic aberration in the coding region of the hprt gene. At least 28 of 33 mutants were independent. Our method provides a new versatile tool for in vivo analysis for mutations of the hprt gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cloning, Molecular / methods*
  • Colonic Neoplasms / genetics
  • DNA Mutational Analysis / methods*
  • Female
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / genetics*
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • RNA, Messenger / analysis
  • RNA-Directed DNA Polymerase
  • T-Lymphocytes / chemistry
  • T-Lymphocytes / enzymology*
  • T-Lymphocytes / pathology
  • Tumor Cells, Cultured

Substances

  • RNA, Messenger
  • Hypoxanthine Phosphoribosyltransferase
  • RNA-Directed DNA Polymerase