title: Spontaneously arising red cells with a McLeod-like phenotype in normal donors.
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 x 10(-6) in neonatal cord blood samples and 39 x 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.
authors.affiliation: Division of Hematology, Department of Medicine, NYU School of Medicine, New York, NY, United States. David.Araten@nyumc.org
authors.forename: David J
authors.initials: DJ
authors.lastname: Araten
authors.forename: Katie J
authors.initials: KJ
authors.lastname: Sanders
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Pu
authors.forename: Soohee
authors.initials: S
authors.lastname: Lee
mesh_terms: D000328:Adult; D026921:Amino Acid Transport Systems, Neutral; D001782:Blood Donors; D004912:Erythrocytes / Q000378:metabolism*; D005312:Fetal Blood; D005787:Gene Frequency; D006801:Humans; D009154:Mutation
chemical_list: D026921:Amino Acid Transport Systems, Neutral; C087883:XK protein, human