Chronic γ-irradiation results in increased cell killing and chromosomal aberration with specific breakpoints in fibroblast cell strains derived from non-Hodgkin's lymphoma patients

Waghray, Manjula; Sigut, David; Einspenner, M.; Kunhi, Mohammed; Al‐Sedairy, Sultan T.; Hannan, Mohammed A.

doi:10.1016/0027-5107(92)90006-n

Cited by 4 publications

(1 citation statement)

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“…A-T carriers have been shown to have intermediate cellular radiosensitivity between A-T patients and normal controls (Chen et al, 1978;Waghray et al, 1992). Although generally asymptomatic, A-T carriers have also been shown to be at increased risk of developing breast cancer (Swift et al, 1991;Pippard et al, 1988;Borresen et al, 1990;reviewed in Khanna, 2000).…”

Section: Introductionmentioning

confidence: 99%

Exon skipping in the ATM gene in normal individuals: The effect of blood sample storage on RT-PCR analysis

et al. 2000

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Mutations in ATM, the gene defective in the human genetic disorder ataxia‐telangiectasia (A‐T), have been described in A‐T patients and in a variety of tumor samples. Most of these arise due to exon skipping. We developed an RT‐PCR based protein truncation test (PTT) to screen for ATM mutations in breast cancer patients showing adverse response to radiotherapy. An additional PTT product was evident in the ATM gene in peripheral blood mononuclear cells (PBMCs) from blood samples that were collected 2 days or more prior to RNA extraction. Lymphoblastoid cell lines established from the same blood samples showed no evidence of the additional band. Cloning and sequencing of the additional RT‐PCR product revealed an exact deletion of exon 20 (2639 del 200), pointing to exon skipping. RT‐PCR analysis of RNA extracted from freshly prepared PBMCs from 3 normal individuals showed no evidence of the additional RT‐PCR product but when the blood was stored for 2‐3 days prior to RNA extraction the lower molecular weight band was evident in every sample. DNA sequencing confirmed this to be due to loss of exon 20. These data suggest that mRNA‐based mutation analysis on ATM should be carried out on unstored blood samples to avoid artificial loss of exons that give rise to apparent mutations. © 2001 Wiley‐Liss, Inc.

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Section: Introductionmentioning

confidence: 99%