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Myeloid but not lymphoid cells carry the 5q deletion: polymerase chain
reaction analysis of loss of heterozygosity using mini-repeat sequences on
highly purified cell fractions
MJ Kroef, WE Fibbe, R Mout, RP Jansen, HL Haak, JW Wessels, H Van Kamp, R Willemze and JE Landegent
Department of Hematology, University Medical Center, Leiden, The
Netherlands.
Interstitial deletions of the long arm of chromosome 5 are among the most
characteristic abnormalities observed in myeloid disorders. To assess the
lineage involvement of peripheral blood cells from patients with a
5q--anomaly, purified neutrophils, monocytes, T lymphocytes, and B
lymphocytes were analyzed for loss of heterozygosity using six different
highly polymorphic mininucleotide and dinucleotide (CA) repeat sequences
from the 5q31 to 5q33 region. Ten patients were screened by polymerase
chain reaction (PCR) amplification and proved to be informative for at
least one marker. Six patients showed a complete or partial disappearance
of an allele in myeloid cells, whereas cells of lymphoid lineages exhibited
full heterozygosity. The other patients displayed no allelic loss,
indicating that the informative markers were located outside the deleted
chromosomal segments. In addition, three female patients who were also
polymorphic for the BstXI site in the PGK- 1 gene were analyzed for the
methylation status of this gene. Clonality of hematopoiesis, as determined
by non-random X-chromosome inactivation, followed the same cell pattern as
the 5q-specific allelic losses. In conclusion, using tumor-specific and
clonal markers, we have demonstrated that the 5q- anomaly is restricted to
cells of myeloid origin, leaving lymphoid cells unaffected.
Volume 81,
Issue 7,
pp. 1849-1854,
04/01/1993
Copyright © 1993 by The American Society of Hematology
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