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Title: Clonality in myeloproliferative disorders: Analysis by means of polymerase chain reaction

Journal Article · · Proceedings of the National Academy of Sciences of the United States of America; (United States)
; ; ; ;  [1]
  1. Harvard Medical School, Boston, MA (United States)

The myeloproliferative syndromes are acquired disorders of hematopoiesis that provide insights into the transition from somatic cell mutation to neoplasia. The clonal origin of specific blood cells can be assessed in patients with X chromosome-linked polymorphisms, taking advantage of random inactivation of the X chromosome. The authors have adapted the PCR for determination of clonality on as few as 100 cells, including individual colonies grown in culture. Amplifying a polymorphic portion of the X chromosome-linked phosphoglycerate kinase (PGK) gene after selective digestion of the active X chromosome with a methylation-sensitive restriction enzyme gave results fully concordant with standard Southern blotting of DNA samples form normal (polyclonal) polymorphonuclear cells (PMN) as well as clonal PMN from patients with myelodysplastic syndrome and polycythemia vera (PCV). They have used this technique to demonstrate heterogeneity of lineage involvement in patients with PCV. The same clinical phenotype may arise from clonal proliferation of different hematopoietic progenitors.

OSTI ID:
5604292
Journal Information:
Proceedings of the National Academy of Sciences of the United States of America; (United States), Vol. 88:15; ISSN 0027-8424
Country of Publication:
United States
Language:
English