Detection of chromosome 11q23 involving translocations by pulsed field gel electrophoresis

Ann Hematol. 1994 Mar;68(3):133-8. doi: 10.1007/BF01727417.

Abstract

Translocations involving chromosome band 11q23 are associated with acute lymphocytic and myelomonocytic leukemias with poor clinical prognosis. Pulsed-field gel electrophoresis (PFGE) was used to characterize the breakpoint region that has been mapped within a 300-kb fragment between the genes CD3G and PBGD. Using CD3G as a marker on SfuI-restricted DNA separated by PFGE, we detected a rearrangement involving 11q23 in the cell line B1 with a t(4;11) and in the leukemic cells of two patients, one with a t(2;11) and one with a t(11;19). In comparison, lymphoblastoid cell lines established from normal peripheral blood lymphocytes of these two patients had a normal karyotype and showed germline configuration, thus excluding RFL polymorphisms. Digestion of DNA with BssHII or SalI showed heterogeneity of 11q23 involving breakpoints. A rearrangement in the t(4;11) containing lymphoma cell line Karpas422 was seen only with the chromosome 4 probe KIT on SalI-digested DNA. PFGE is a reliable method for the mapping and detection of complex breakpoint regions. The breakpoints on 11q23 involve different introns of the highly spliced HRX/ALL-1/MLL gene.

Publication types

  • Case Reports

MeSH terms

  • Acute Disease
  • Adult
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 19
  • Chromosomes, Human, Pair 2
  • Electrophoresis, Agar Gel
  • Humans
  • Karyotyping
  • Leukemia / genetics*
  • Leukemia, Myeloid, Acute / genetics
  • Male
  • Middle Aged
  • Nucleic Acid Hybridization
  • Restriction Mapping
  • Translocation, Genetic*