Translocation breakpoint mapping: molecular and cytogenetic studies of chromosome 22

Cancer Genet Cytogenet. 1986 Jan 1;19(1-2):81-92. doi: 10.1016/0165-4608(86)90375-4.

Abstract

A number of clinically significant human diseases are associated with rearrangements of chromosome #22. These include the t(9;22) of chronic myelogenous leukemia (CML), the t(8;22) of Burkitt's lymphoma (BL), the t(11;22)(q23;q11) constitutional rearrangement and the t(11;22) of Ewing's sarcoma (ES) and neuroepithelioma (NE). All of these translocations have breakpoints in 22q11. Using a molecular cytogenetic approach and various cloned portions of the lambda light chain gene as probe, we have assigned a linear order within 22q11 to these breakpoints. Using chromosomal in situ hybridization we have determined that the 22q11 breakpoint in BL2, a t(8;22) Burkitt's lymphoma is proximal to the breakpoint of the t(9;22) of CML. We have demonstrated that the 22q11 breakpoint of PA682, another t(8;22) BL cell line, interrupts the lambda light chain locus. Using a combination of variable and constant region probes and PA682 cells, we have shown that the lambda light chain locus is oriented such that V lambda is proximal to C lambda in 22q11. Our results for the constitutional t(11;22) indicate that the 22q11 breakpoint is distal to that of BL, proximal both to that of CML and ES and, in addition, it interrupts the C lambda gene cluster. Our studies of the 22q11 breakpoint of the t(11;22) of ES and NE suggest that they are the most distal of the breakpoints we studied on chromosome #22.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Burkitt Lymphoma / genetics
  • Cell Line
  • Chromosome Banding
  • Chromosome Mapping*
  • Chromosomes, Human, 21-22 and Y*
  • Fibroblasts / ultrastructure
  • Genetic Markers
  • Humans
  • Karyotyping
  • Leukemia, Myeloid / genetics
  • Lymphocytes / ultrastructure
  • Neoplasms / genetics*
  • Neuroectodermal Tumors, Primitive, Peripheral / genetics
  • Nucleic Acid Hybridization
  • Sarcoma, Ewing / genetics
  • Translocation, Genetic*

Substances

  • Genetic Markers