Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome
- Lawrence Livermore National Lab., CA (USA)
- New York Blood Center, New York (USA)
The glycophorin A assay was used to estimate the frequency of mutations that accumulate in vivo in somatic cells of persons with Bloom's syndrome (BS). This assay measured the frequency of persons of blood type MN of variant erythrocytes that lack the expression of one allelic form of glycophorin A, presumably due to mutational recombinational events in erythroid precursor cells. Samples of blood from persons with BS showed dramatic 50- to 100-fold increases in the frequency of variants of three types, those with a hemizygous phenotype, those with a homozygous phenotype, and those with what appears to be partial loss of the expression of one locus. The high frequency of homozygous variants, genetic evidence for altered allelic segregation of a specific biochemical locus, provides evidence for increased somatic crossing-over in vivo in BS. An increased generation of functional hemizygosity and homozygosity in their somatic cells may play an important role in the extreme cancer risk of persons with BS.
- DOE Contract Number:
- W-7405-ENG-48
- OSTI ID:
- 5052291
- Journal Information:
- Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 86:2; ISSN 0027-8424
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
CARCINOGENESIS
RISK ASSESSMENT
HEREDITARY DISEASES
MUTATION FREQUENCY
MEMBRANE PROTEINS
BLOOD CHEMISTRY
CELL FLOW SYSTEMS
CHROMOSOMAL ABERRATIONS
ERYTHROCYTES
IN VIVO
MONOCLONAL ANTIBODIES
PATIENTS
ANTIBODIES
BIOLOGICAL MATERIALS
BLOOD
BLOOD CELLS
BODY FLUIDS
DISEASES
MATERIALS
MUTATIONS
ORGANIC COMPOUNDS
PATHOGENESIS
PROTEINS
550400* - Genetics