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)|
|Number of pages||5|
|Journal||Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis|
|State||Published - Dec 1 2009|
All Science Journal Classification (ASJC) codes
- Molecular Biology
- Health, Toxicology and Mutagenesis