Molecular Nature of in Vivo Mutations in Human Cells at the Autosomal HLA-A Locus

Alexander A. Morley, Scott A. Grist, David R. Turner, Alexander Kutlaca, Greg Bennett

    Research output: Contribution to journalArticlepeer-review

    63 Citations (Scopus)


    The mutations present in vivo in normal human cells were studied at the HLA-A locus by isolating mutant lymphocytes using antibody-complement immunoselection and cloning at limiting dilution. The molecular basis for mutation in 127 mutant lymphocytes from 10 individuals was determined by studying a variety of polymorphic gene loci on both arms of chromosome 6. No change was detected in 78 mutants (61.4%), gene deletion was detected in 11 (8.7%), and mitotic recombination was detected in 38 (29.9%). Neither gene conversion nor chromosome loss was detected. These observations document the mechanisms responsible for gene loss in normal human cells in vivo, emphasize the importance of mitotic recombination, and indicate the similarity between mutational mechanisms in normal cells and in cancer cells.

    Original languageEnglish
    Pages (from-to)4584-4587
    Number of pages4
    JournalCancer Research
    Issue number15
    Publication statusPublished - Aug 1990


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