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

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 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.

Authors:
; ;  [1];  [2]
  1. Lawrence Livermore National Lab., CA (USA)
  2. New York Blood Center, New York (USA)
Publication Date:
OSTI Identifier:
5052291
DOE Contract Number:  
W-7405-ENG-48
Resource Type:
Journal Article
Journal Name:
Proceedings of the National Academy of Sciences of the United States of America; (USA)
Additional Journal Information:
Journal Volume: 86:2; Journal ID: ISSN 0027-8424
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; 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

Citation Formats

Langlois, R G, Bigbee, W L, Jensen, R H, and German, J. Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome. United States: N. p., 1989. Web. doi:10.1073/pnas.86.2.670.
Langlois, R G, Bigbee, W L, Jensen, R H, & German, J. Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome. United States. doi:10.1073/pnas.86.2.670.
Langlois, R G, Bigbee, W L, Jensen, R H, and German, J. Sun . "Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome". United States. doi:10.1073/pnas.86.2.670.
@article{osti_5052291,
title = {Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome},
author = {Langlois, R G and Bigbee, W L and Jensen, R H and German, J},
abstractNote = {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.},
doi = {10.1073/pnas.86.2.670},
journal = {Proceedings of the National Academy of Sciences of the United States of America; (USA)},
issn = {0027-8424},
number = ,
volume = 86:2,
place = {United States},
year = {1989},
month = {1}
}