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Molecular and cytogenetic analysis of chromosomal arms 2q and 13q in alveolar rhabdomyosarcoma
Author(s) -
Barr Frederic G.,
Biegel Jaclyn A.,
Sellinger Beatrice,
Womer Richard B.,
Emanuel Beverly S.
Publication year - 1991
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.2870030212
Subject(s) - microbiology and biotechnology , southern blot , biology , western blot , gene , chromosomal translocation , genetics
We present cytogenetic and molecular genetic analyses of two cases of alveolar rhabdomyosarcoma. The characteristic translocation between chromosomes 2 and 13, t(2;13)(q35;q14), has been identified in both cases. Using cell lines derived from these tumor specimens, we have performed Southern blot analysis to investigate the possibility of rearrangement of 14 candidate genes mapping to the relevant regions of 2q and 13q. These candidate genes can be divided into 5 groups: signal transduction proteins ( RBI , inhibin α, FLTI , and HOX4B ), muscle‐specific products [myosin light chain, desmin, and nicotinic cholinergic receptor subunits γ and δ ( CHRNG and CHRND )], extracellular matrix proteins (collagen type VI α3 chain, elastin, and fibronectin), transformation‐associated products (intestinal alkaline phosphatase and L‐plastin), and other genes (esterase D). Conventional gel electrophoresis followed by Southern blot analysis indicated no evidence of rearrangement within or near these genes except for a rearrangement in the CHRNG ‐ CHRND locus, which occurred only in a subpopulation of the late recurrence tumor cells of one patient. In addition, we employed pulsed‐field gel electrophoresis—Southern blot analysis to demonstrate the absence of detectable rearrangements within a larger region around each of these genes.