Evidence for Increased in vivo Mutation and Somatic Recombination in Bloom's Syndrome

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 measures the frequency in persons of blood type MN of variant erythrocytes that lack the expression of one allelic form of glycophor...

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Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 1989, Vol.86 (2), p.670-674
Main Authors: Langlois, Richard G., Bigbee, William L., Jensen, Ronald H., German, James
Format: Article
Language:English
Subjects:
550400 - Genetics
Adolescent
Adult
Alleles
ANTIBODIES
BASIC BIOLOGICAL SCIENCES
BIOLOGICAL MATERIALS
BLOOD
BLOOD CELLS
BLOOD CHEMISTRY
Bloom Syndrome - blood
Bloom Syndrome - genetics
BODY FLUIDS
CARCINOGENESIS
CELL FLOW SYSTEMS
Child
Child, Preschool
CHROMOSOMAL ABERRATIONS
Chromosomes
DISEASES
ERYTHROCYTES
Erythrocytes - analysis
Erythroid cells
Flow Cytometry
Fluorescence
Genetic loci
Genetic mutation
Glycophorin - analysis
Glycophorin - genetics
HEREDITARY DISEASES
Homozygote
Humans
IN VIVO
MATERIALS
MEMBRANE PROTEINS
MONOCLONAL ANTIBODIES
Mutation
MUTATION FREQUENCY
MUTATIONS
ORGANIC COMPOUNDS
PATHOGENESIS
PATIENTS
Phenotype
Phenotypes
PROTEINS
Recombination, Genetic
RISK ASSESSMENT
Somatic cells
Tumors
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Description
Summary: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 measures the frequency in persons of blood type MN of variant erythrocytes that lack the expression of one allelic form of glycophorin A, presumably due to mutational or 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.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.86.2.670