Mutations in human lymphocytes commonly involve gene duplication and resemble those seen in cancer cells

D. R. Turner, S. A. Grist, M. Janatipour, A. A. Morley

    Research output: Contribution to journalArticle

    55 Citations (Scopus)

    Abstract

    Mutations in human lymphocytes are commonly due to gene deletion. To investigate the mechanism of deletion for autosomal genes, we immunoselected lymphocytes mutated at the HLA-A locus and cloned them for molecular analysis. Of 36 mutant clones that showed deletion of the selected HLA-A allele, 8 had resulted from a simple gene deletion, whereas 28 had resulted from a more complex mutational event involving reduplication of the nonselected HLA-A allele as indicated by hybridization intensity on Southern blots. In 3 of the 28 clones, retention of heterozygosity at the HLA-B locus indicated that the reduplication was due to recombination between the two chromosomes 6; but in the remaining 25 clones, distinction could no be made between recombination and chromosome reduplication. The results indicate that mutations in normal somatic cells frequently result in hemizygosity or homozygosity at gene loci and, thereby, resemble the mutations thought to be important in the etiology of various forms of cancer.

    Original languageEnglish
    Pages (from-to)3189-3192
    Number of pages4
    JournalProceedings of the National Academy of Sciences of the United States of America
    Volume85
    Issue number9
    DOIs
    Publication statusPublished - 1 Jan 1988

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