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  • Determination of clonality on the basis of assays of inactivation of genes encoded on the X chromosome has provided important insights into the origins of neoplastic diseases, helped to decipher the hierarchy of hematopoiesis, and provided a mechanism for differentiating between inherited and acquired disorders, for distinguishing between clonal and reactive acquired hematologic abnormalities and for showing cell selection in female carriers of X-linked inherited processes. The methylation status of CpG sites close to the trinucleotide repeats in exon 1 of the human androgen receptor (AR) X chromosome gene assay (HUMARA) has been used to determine clonality. This HUMARA at times indicated clonal hematopoiesis in healthy elderly women, thus precluding its applicability. We used a clonality assay based on quantitative expression of polymorphic X chromosome genes (qTCA) and found no evidence of clonal hematopoiesis in healthy nonanemic elderly persons. These data provide the molecular basis of incomplete correlation with the pattern of DNA methylation of this X chromosome AR gene locus.
  • Determination of clonality on the basis of assays of inactivation of genes encoded on the X chromosome has provided important insights into the origins of neoplastic diseases, helped to decipher the hierarchy of hematopoiesis, and provided a mechanism for differentiating between inherited and acquired disorders, for distinguishing between clonal and reactive acquired hematologic abnormalities and for showing cell selection in female carriers of X-linked inherited processes. The methylation status of CpG sites close to the trinucleotide repeats in exon 1 of the human androgen receptor (AR) X chromosome gene assay (HUMARA) has been used to determine clonality. This HUMARA at times indicated clonal hematopoiesis in healthy elderly women, thus precluding its applicability. We used a clonality assay based on quantitative expression of polymorphic X chromosome genes (qTCA) and found no evidence of clonal hematopoiesis in healthy nonanemic elderly persons. These data provide the molecular basis of incomplete correlation with the pattern of DNA methylation of this X chromosome AR gene locus. (en)
Title
  • Methylation of AR locus does not always reflect X chromosome inactivation state
  • Methylation of AR locus does not always reflect X chromosome inactivation state (en)
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  • Methylation of AR locus does not always reflect X chromosome inactivation state
  • Methylation of AR locus does not always reflect X chromosome inactivation state (en)
skos:notation
  • RIV/61989592:15110/12:33141042!RIV13-MSM-15110___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • S
http://linked.open...iv/cisloPeriodika
  • 13
http://linked.open...vai/riv/dodaniDat
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  • 149802
http://linked.open...ai/riv/idVysledku
  • RIV/61989592:15110/12:33141042
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • X-chromosome inactivation; TCA; HUMARA (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [63709E02CA31]
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  • Blood
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http://linked.open...v/svazekPeriodika
  • 119
http://linked.open...iv/tvurceVysledku
  • Jelínek, Jaroslav
  • Agarwal, Neeraj
  • Cairns, Bradley
  • Hammoud, Sue
  • Hickman, Kimberly
  • Parker, Charles J
  • Piterková, Lucie
  • Prchal, Josef T.
  • Swierczek, Sabina I
  • Wilson, Andrew
http://linked.open...ain/vavai/riv/wos
  • 000302141200001
issn
  • 0006-4971
number of pages
http://bibframe.org/vocab/doi
  • 10.1182/blood-2011-11-390351
http://localhost/t...ganizacniJednotka
  • 15110
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