Chromosomal instability in ataxia telangiectasia

P. H. Kohn, J. Whang-Peng, W. R. Levis

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

We have examined various aspects of lymphocyte chromosomal instability in three families comprised of five individuals affected with ataxiatelangiectasia (AT), their obligate heterozygous parents, and their unaffected sibs. We found that neither baseline sister chromatid exchanges (SCEs) nor mitomycin-C-induced increments in SCEs showed any significant differences among family members or between AT heterozygotes or homozygotes. Chromosome breakage in first-division metaphases was found to be moderately elevated in three of the five AT homozygotes (range 5-12%); breakage in the six AT obligate heterozygotes was within normal limits (0-4%). Analysis of Giemsa-banded metaphases indicated the presence of a clone bearing a paracentric inversion of chromosome #14 in addition to other chromosome #14 abnormalities in one AT homozygote. The same inversion was also found in this individual's affected sister and his obligate heterozygous father. A discussion regarding the relationship of the specificity of breakage and reunion of bands q12 and q32 on chromosome #14 and the high incidence of malignancy in AT is included.

Original languageEnglish
Pages (from-to)289-302
Number of pages14
JournalCancer Genetics and Cytogenetics
Volume6
Issue number4
DOIs
Publication statusPublished - Jan 1 1982
Externally publishedYes

Fingerprint

Chromosomes, Human, Pair 14
Ataxia Telangiectasia
Chromosomal Instability
Homozygote
Sister Chromatid Exchange
Metaphase
Heterozygote
Reunion
Chromosome Breakage
Mitomycin
Fathers
Chromosome Aberrations
Siblings
Clone Cells
Parents
Lymphocytes
Incidence
Neoplasms

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology

Cite this

Chromosomal instability in ataxia telangiectasia. / Kohn, P. H.; Whang-Peng, J.; Levis, W. R.

In: Cancer Genetics and Cytogenetics, Vol. 6, No. 4, 01.01.1982, p. 289-302.

Research output: Contribution to journalArticle

Kohn, P. H. ; Whang-Peng, J. ; Levis, W. R. / Chromosomal instability in ataxia telangiectasia. In: Cancer Genetics and Cytogenetics. 1982 ; Vol. 6, No. 4. pp. 289-302.
@article{2aa5b13a63cf497485fa7a5224a497db,
title = "Chromosomal instability in ataxia telangiectasia",
abstract = "We have examined various aspects of lymphocyte chromosomal instability in three families comprised of five individuals affected with ataxiatelangiectasia (AT), their obligate heterozygous parents, and their unaffected sibs. We found that neither baseline sister chromatid exchanges (SCEs) nor mitomycin-C-induced increments in SCEs showed any significant differences among family members or between AT heterozygotes or homozygotes. Chromosome breakage in first-division metaphases was found to be moderately elevated in three of the five AT homozygotes (range 5-12{\%}); breakage in the six AT obligate heterozygotes was within normal limits (0-4{\%}). Analysis of Giemsa-banded metaphases indicated the presence of a clone bearing a paracentric inversion of chromosome #14 in addition to other chromosome #14 abnormalities in one AT homozygote. The same inversion was also found in this individual's affected sister and his obligate heterozygous father. A discussion regarding the relationship of the specificity of breakage and reunion of bands q12 and q32 on chromosome #14 and the high incidence of malignancy in AT is included.",
author = "Kohn, {P. H.} and J. Whang-Peng and Levis, {W. R.}",
year = "1982",
month = "1",
day = "1",
doi = "10.1016/0165-4608(82)90085-1",
language = "English",
volume = "6",
pages = "289--302",
journal = "Cancer Genetics and Cytogenetics",
issn = "0165-4608",
publisher = "Elsevier Inc.",
number = "4",

}

TY - JOUR

T1 - Chromosomal instability in ataxia telangiectasia

AU - Kohn, P. H.

AU - Whang-Peng, J.

AU - Levis, W. R.

PY - 1982/1/1

Y1 - 1982/1/1

N2 - We have examined various aspects of lymphocyte chromosomal instability in three families comprised of five individuals affected with ataxiatelangiectasia (AT), their obligate heterozygous parents, and their unaffected sibs. We found that neither baseline sister chromatid exchanges (SCEs) nor mitomycin-C-induced increments in SCEs showed any significant differences among family members or between AT heterozygotes or homozygotes. Chromosome breakage in first-division metaphases was found to be moderately elevated in three of the five AT homozygotes (range 5-12%); breakage in the six AT obligate heterozygotes was within normal limits (0-4%). Analysis of Giemsa-banded metaphases indicated the presence of a clone bearing a paracentric inversion of chromosome #14 in addition to other chromosome #14 abnormalities in one AT homozygote. The same inversion was also found in this individual's affected sister and his obligate heterozygous father. A discussion regarding the relationship of the specificity of breakage and reunion of bands q12 and q32 on chromosome #14 and the high incidence of malignancy in AT is included.

AB - We have examined various aspects of lymphocyte chromosomal instability in three families comprised of five individuals affected with ataxiatelangiectasia (AT), their obligate heterozygous parents, and their unaffected sibs. We found that neither baseline sister chromatid exchanges (SCEs) nor mitomycin-C-induced increments in SCEs showed any significant differences among family members or between AT heterozygotes or homozygotes. Chromosome breakage in first-division metaphases was found to be moderately elevated in three of the five AT homozygotes (range 5-12%); breakage in the six AT obligate heterozygotes was within normal limits (0-4%). Analysis of Giemsa-banded metaphases indicated the presence of a clone bearing a paracentric inversion of chromosome #14 in addition to other chromosome #14 abnormalities in one AT homozygote. The same inversion was also found in this individual's affected sister and his obligate heterozygous father. A discussion regarding the relationship of the specificity of breakage and reunion of bands q12 and q32 on chromosome #14 and the high incidence of malignancy in AT is included.

UR - http://www.scopus.com/inward/record.url?scp=0020448913&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0020448913&partnerID=8YFLogxK

U2 - 10.1016/0165-4608(82)90085-1

DO - 10.1016/0165-4608(82)90085-1

M3 - Article

VL - 6

SP - 289

EP - 302

JO - Cancer Genetics and Cytogenetics

JF - Cancer Genetics and Cytogenetics

SN - 0165-4608

IS - 4

ER -