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 language | English (US) |
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Pages (from-to) | 1-5 |
Number of pages | 5 |
Journal | Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis |
Volume | 671 |
Issue number | 1-2 |
DOIs | |
State | Published - Dec 1 2009 |
Externally published | Yes |
Keywords
- Flow cytometry
- Kell proteins
- Mutant frequency
- Spontaneous mutation
- XK gene
ASJC Scopus subject areas
- Molecular Biology
- Genetics
- Health, Toxicology and Mutagenesis