Spontaneously arising red cells with a McLeod-like phenotype in normal donors

David J. Araten, Katie J. Sanders, Jeffrey Pu, Soohee Lee

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

Very few human genes can be used to identify spontaneous inactivating somatic mutations. We hypothesized that because the XK gene is X-linked, it would be easy to identify spontaneously arising red cells with a phenotype resembling the McLeod syndrome, which results from inherited XK mutations. Here, by flow cytometry, we detect such phenotypic variants at a median frequency of 9 × 10-6 in neonatal cord blood samples and 39 × 10-6 in healthy adults (p = 0.004). It may be possible to further investigate the relationship between aging, mutations, and cancer using this approach.

Original languageEnglish (US)
Pages (from-to)1-5
Number of pages5
JournalMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
Volume671
Issue number1-2
DOIs
StatePublished - Dec 1 2009
Externally publishedYes

Keywords

  • Flow cytometry
  • Kell proteins
  • Mutant frequency
  • Spontaneous mutation
  • XK gene

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Health, Toxicology and Mutagenesis

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