Cytogenetic study of patients with ataxia-telangiectasia

Бочков, Н. П.; Lopukhin, Yu. M.; Кулешов, Н. П.; Ковальчук, Л. В.

doi:10.1007/bf00283768

Cited by 24 publications

(8 citation statements)

References 26 publications

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“…Other relevant evidence has been recently reported from Russia (19). A patient with A-T and "lymphoreticular neoplasia" had a translocation (Dq-;Cq+) in lymphocytes.…”

Section: Resultsmentioning

confidence: 71%

Somatic rearrangement of chromosome 14 in human lymphocytes.

McCaw¹,

Hecht²,

Harnden³

et al. 1975

Proc. Natl. Acad. Sci. U.S.A.

229

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“…Other relevant evidence has been recently reported from Russia (19). A patient with A-T and "lymphoreticular neoplasia" had a translocation (Dq-;Cq+) in lymphocytes.…”

Section: Resultsmentioning

confidence: 71%

Somatic rearrangement of chromosome 14 in human lymphocytes.

McCaw¹,

Hecht²,

Harnden³

et al. 1975

Proc. Natl. Acad. Sci. U.S.A.

229

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“…The occurrence, however, of chromosomally abnormal clones in AT patients is perhaps their most distinguishable cytogenetic feature. The presence and progression of clones is well established (Oxford et a[., 1975;Hecht et al, 1973;Bochkov et al, 1974;A1 Saadi et al, 1976 andVan Heme1 et al, 1976). This is confirmed in the present study.…”

Section: Discussionmentioning

confidence: 88%

Spontaneous cytogenetic abnormalities in lymphocytes from thirteen patients with ataxia telangiectasia

Taylor

Oxford

Metcalfe

1981

Intl Journal of Cancer

104

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Ataxia telangiectasia (AT) is a human autosomal recessive disorder in which patients show a marked predisposition to malignant disease and cytogenetic abnormalities. We report here the levels of spontaneously occurring chromosome aberrations and particularly the presence of cytogenetically marked clones of cells in peripheral lymphocytes of 13 patients. There is a variation between the patients with respect to frequency of different aberration types, and clones are present in 5/13 patients. Several of these patients appear to have more than a single clone, possible clones or subclones. There is no evidence for any malignant disease in any of these patients. A description is given from one of these patients, of the most complex clone so far reported in an AT patient without malignant disease. The development of such a complex clone might be important as a step in malignant change. Similarities between this clone and one reported in an AT patient with T-cell chronic lymphocytic leukaemia are discussed.

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“…It was then shown that, as compared to normal cells, cells from A-T patients demonstrated decreased survival levels following exposure to ionizing radiation (Taylor et , Arlett 1977, Weichselbaum et al . 1977) and increased levels of both spontaneous and X-ray-induced chromosome aberrations (Higurashi and Conen 1973, Bochkov et al . 1974, Cohen et al 1975, Oxford et al .…”

Section: Int J Radiat Biol Downloaded From Informahealthcarecom By Qmentioning

confidence: 95%

The Molecular Genetics of the Incision Step in the DNA Excision Repair Process

Rubin

1988

International Journal of Radiation Biology

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This review describes the evolution of research into the genetic basis of how different organisms use the process of excision repair to recognize and remove lesions from their cellular DNA. One particular aspect of excision repair, DNA incision, and how it is controlled at the genetic level in bacteriophage, bacteria, S. cerevisae, D. melanogaster, rodent cells and humans is examined. In phage T4, DNA is incised by a DNA glycosylase-AP endonuclease that is coded for by the denV gene. In E. coli, the products of three genes, uvrA, uvrB and uvrC, are required to form the UVRABC excinuclease that cleaves DNA and releases a fragment 12-13 nucleotides long containing the site of damage. In S. cerevisiae, genes complementing five mutants of the RAD3 epistasis group, rad1, rad2, rad3, rad4 and rad10 have been cloned and analyzed. Rodent cells sensitive to a variety of mutagenic agents and deficient in excision repair are being used in molecular studies to identify and clone human repair genes (e.g. ERCC1) capable of complementing mammalian repair defects. Most studies of the human system, however, have been done with cells isolated from patients suffering from the repair defective, cancer-prone disorder, xeroderma pigmentosum, and these cells are now beginning to be characterized at the molecular level. Studies such as these that provide a greater understanding of the genetic basis of DNA repair should also offer new insights into other cellular processes, including genetic recombination, differentiation, mutagenesis, carcinogenesis and aging.

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Cytogenetic study of patients with ataxia-telangiectasia

Cited by 24 publications

References 26 publications

Somatic rearrangement of chromosome 14 in human lymphocytes.

Somatic rearrangement of chromosome 14 in human lymphocytes.

Spontaneous cytogenetic abnormalities in lymphocytes from thirteen patients with ataxia telangiectasia

The Molecular Genetics of the Incision Step in the DNA Excision Repair Process

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