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PMID: 2911598 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.

Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 86 ·No. 2 ·1989-01-00 ·Pages 670-4

Langlois RG, Bigbee WL, Jensen RH, German J

Abstract

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.

MeSH Terms
Adolescent Adult Alleles Bloom Syndrome/blood,genetics Child Child, Preschool Erythrocytes/analysis Flow Cytometry Glycophorins/analysis,genetics Homozygote Humans Mutation Phenotype Recombination, Genetic
Chemicals
Glycophorins
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Langlois R G
Lawrence Livermore National Laboratory, University of California, Livermore 94550.
Bigbee W L
Jensen R H
German J
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.86.2.670
Published
1989-01-00
Pages
670-4
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC286535
Subset
IM
Grants
NCI NIH HHS · CA38036 · United States
NICHD NIH HHS · HD04134 · United States
External Links
PubMed source DOI: 10.1073/pnas.86.2.670 PMC Full Text View journal details
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