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Tissue specificity of X-chromosome inactivation patterns
RE Gale, H Wheadon, P Boulos and DC Linch
Department of Haematology, University College London Medical School, UK.
The analysis of X-chromosome inactivation patterns has been used in a
number of clinical situations such as the identification of carrier status
in X-linked genetic disorders and the establishment of the monoclonal
origin of tumors. Interpretation of the result obtained requires comparison
with the constitutive pattern for the individual, and for hematopoietic
malignancies, skin biopsies or cultured fibroblasts have often been used as
the control tissue because normal cells of the same lineage as the
malignancy are not generally available. However, this assumes that patterns
in the different tissues are constitutionally the same. We have therefore
compared X-chromosome inactivation patterns from peripheral blood
(granulocytes, E- cells, and T cells), skin, and muscle from 20
hematologically normal females, and colonic mucosa from 9 individuals. In
11 patients (55%), the results obtained were similar for all tissues of an
individual, but in 9 patients, significant differences were observed
between tissues. The most consistent feature was a skewing in peripheral
blood (> 75% expression of one allele) but not skin and/or muscle. These
studies suggest that skin cannot be used as a control tissue for the
interpretation of X-chromosome inactivation patterns in hematopoietic
cells.
Volume 83,
Issue 10,
pp. 2899-2905,
05/15/1994
Copyright © 1994 by The American Society of Hematology
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