Genomic Inverse PCR for Screening of Preleukemic Cells in Newborns (GIPFEL Technology)

Methods Mol Biol. 2021:2185:113-134. doi: 10.1007/978-1-0716-0810-4_8.

Abstract

Recurrent chromosomal translocations define genetic subtypes of childhood leukemia and present the first hit that generates an expanded clone of preleukemic cells in the bone marrow. Most commonly, reverse transcriptase PCR is used to detect these translocations on RNA level. This technique has severe drawbacks, including sensitivity to contamination and instability of RNA. Here, we describe the genomic inverse PCR for exploration of ligated breakpoints (GIPFEL) that overcomes these pitfalls.

Keywords: Chromosomal translocation; GIPFEL; Newborn screening; Preleukemic cells.

MeSH terms

  • Bone Marrow Cells* / metabolism
  • Bone Marrow Cells* / pathology
  • Female
  • Humans
  • Infant, Newborn
  • Leukemia* / genetics
  • Leukemia* / metabolism
  • Leukemia* / pathology
  • Male
  • Precancerous Conditions* / genetics
  • Precancerous Conditions* / metabolism
  • Precancerous Conditions* / pathology
  • Reverse Transcriptase Polymerase Chain Reaction*