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Blood, 1 September 2007, Vol. 110, No. 5, pp. 1411-1419.
Prepublished online as a Blood First Edition Paper on April 13, 2007; DOI 10.1182/blood-2006-09-018655.
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Submitted September 1, 2006
Accepted March 21, 2007
X linked clonality testing: interpretation and limitations
George L. Chen and Josef T. Prchal*
Division of Blood and Marrow Transplant, Department of Medicine, Stanford University School of Medicine, Stanford, CA, United States
Division of Hematology, Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT, United States
* Corresponding author; email: josef.prchal{at}hsc.utah.edu.
Clonality often defines the diseased state in hematology. Clonal cells are genetically homogenous and derived from the same precursor; their detection is based on genotype or phenotype. Genotypic clonality relies on somatic mutations to mark the clonal population. Phenotypic clonality identifies the clonal population by the expression pattern of surrogate genes that track the clonal process. The most commonly used phenotypic clonality methods are based on the X chromosome inactivation principle. Clonality detection based on X chromosome inactivation patterns (XCIP) requires discrimination of the active X chromosome from the inactive and differentiation of each X chromosome's parental origin. Detection methods are based on detection of X chromosome sequence polymorphisms identified by protein isoforms, transcribed mRNA, and methylation status. Errors in interpreting clonality tests arise from stochastic, genetic, and cell selection pressures on the mechanism of X inactivation. Progressive X chromosome skewing in aging hematopoietic cells has recently been suggested by XCIP clonality studies. This has led to new insights into the pathophysiology of X-linked and autoimmune disorders. Other research applications include combining XCIP clonality testing with genetic clonality testing to identify clonal populations with yet-to-be-discovered genetic changes.
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