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

Journal Article · Sun May 01 04:00:00 EDT 1988 · Proc. Natl. Acad. Sci. U.S.A.; (United States)

DOI:https://doi.org/10.1073/pnas.85.9.3189· OSTI ID:5982219

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

Mutations in human lymphocytes are commonly due to gene deletion. To investigate the mechanism of deletion for autosomal genes, the authors immunoselected lymphocytes mutated at the HLA-A locus and clones 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 not 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.

• Research Organization: Flinders Univ. of South Australia, Bedford Park
• OSTI ID: 5982219
• Journal Information: Proc. Natl. Acad. Sci. U.S.A.; (United States), Journal Name: Proc. Natl. Acad. Sci. U.S.A.; (United States) Vol. 85:9; ISSN PNASA
• Country of Publication: United States
• Language: English

Related Subjects

550401* -- Genetics-- Tracer Techniques
59 BASIC BIOLOGICAL SCIENCES
ANIMAL CELLS
ANIMALS
AUTORADIOGRAPHY
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
BIOLOGICAL EFFECTS
BIOLOGICAL MATERIALS
BIOLOGICAL RADIATION EFFECTS
BLOOD
BLOOD CELLS
BODY FLUIDS
CARCINOGENESIS
CHROMOSOMAL ABERRATIONS
CONNECTIVE TISSUE CELLS
DAYS LIVING RADIOISOTOPES
DNA
ELECTROMAGNETIC RADIATION
ETIOLOGY
GENE MUTATIONS
GENE RECOMBINATION
GENETIC EFFECTS
GENETIC RADIATION EFFECTS
HYBRIDIZATION
IONIZING RADIATIONS
ISOTOPES
LEUKOCYTES
LIGHT NUCLEI
LYMPHOCYTES
MAMMALS
MAN
MATERIALS
MUTATIONS
NUCLEI
NUCLEIC ACIDS
ODD-ODD NUCLEI
ORGANIC COMPOUNDS
PATHOGENESIS
PHOSPHORUS 32
PHOSPHORUS ISOTOPES
PRIMATES
RADIATION EFFECTS
RADIATIONS
RADIOISOTOPES
SOMATIC CELLS
TUMOR CELLS
VERTEBRATES
X RADIATION