Banding technique used for the detection of chromosomal aberrations induced by radiation and alkylating agents TEPA and epichlorohydrin

Kuçerová, M; Polívková, Z

doi:10.1016/0027-5107(76)90133-0

Cited by 50 publications

(4 citation statements)

References 17 publications

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“…On the other hand, non-random distribution of breaks in individual chromosomes or chromosomal regions after in vitro exposure to chemical mutagens (particularly alkylating agents) has been described (Reeves and Margoles, 1974;Kucerova and Polivkova, 1976;Kaina, 1977;Morad and El Zawahri, 1977;Honeycombe, 1978;Meyne et al, 1979). The following "hot spots" have thus been described: 3p21, 4q31, 5q31, 6p21, 7q32,9q12, 1 lq13 and 17q21, which were also found in our in vitro study (Mamuris etal., 19896).…”

Section: Discussionsupporting

confidence: 80%

Specific chromosomal mutagenesis observed in stimulated lymphocytes from patients with S‐ANLL

Mamuris

Dumont²,

Dutrillaux

et al. 1990

Intl Journal of Cancer

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An analysis of R-banded PHA-stimulated lymphocytes from 13 patients with secondary acute non-lymphocytic leukemia (S-ANLL) following breast cancer or lymphoma, and treatment by alkylating agents and/or radiotherapy, is reported. We found that chromosomes 5, 7, 11 and 17 are over-involved in structural rearrangements. These anomalies are similar to those observed in the same categories of patients without S-ANLL, and after in vitro treatment of normal lymphocytes by the alkylating agent melphalan. These anomalies are thus likely to be induced by treatment, independently of S-ANLL. However, the same chromosomes (5, 7, 11 and 17) are recurrently deficient in leukemic S-ANLL clones. In spite of these similarities, it remains unlikely that the deficiencies observed in leukemic clones were directly induced at the time of treatment. Probably, treatment of primary cancers induces nonrandom mutations of recessive genes located on these chromosomes as also indicated by chromosomal lesions. Various rearrangements including deletions of the homologous normal counterparts may then occur, unmasking mutated recessive genes. The latter stage would be concomitant with the leukemogenic process.

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Section: Discussionsupporting

confidence: 80%

Specific chromosomal mutagenesis observed in stimulated lymphocytes from patients with S‐ANLL

Mamuris

Dumont²,

Dutrillaux

et al. 1990

Intl Journal of Cancer

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“…Nonrandom distributions of spontaneous and chemically induced chromosomal breakpoints in humans have been previously studied by G-banding (Morad et al 1973;Funes-Cravioto et al 1974;Reeves and Margoles 1974;Aula and von Koskull 1976;Kucerova and Polivkova 1976;Morad and El Zawahri 1977;Barrios et al 1989;Warburton 1991;Estop et al 1995). Similar breakpoint locations were found in normal and exposed individuals (Tucker et al 1994) and breakpoints appeared to cluster within the heterochromatic and centromeric regions of certain chromosomes (Johnson et al 1999).…”

Section: Characterization Of Break Sites Within the 1q12 Region Of Spermmentioning

confidence: 99%

Multicolor FISH Analysis of Chromosomal Breaks, Duplications, Deletions, and Numerical Abnormalities in the Sperm of Healthy Men

Sloter

Lowe

Moore

et al. 2000

The American Journal of Human Genetics

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Transmitted de novo structural chromosomal abnormalities, the majority of which are paternally derived, can lead to abnormal reproductive outcomes as well as genetic diseases in offspring. We developed and validated a new multicolor FISH procedure (sperm ACM, which utilizes DNA probes specific for the alpha [1cen], classical, [1q12], and midi [1p36.3] satellites of chromosome 1) which utilizes DNA probes specific for three regions of chromosome 1 to detect human sperm that carry numerical abnormalities plus two categories of structural aberrations: (1) duplications and deletions of 1pter and 1cen, and (2) chromosomal breaks within the 1cen-1q12 region. In healthy men, the average frequencies of sperm with duplications and deletions were (a) 4.5 +/- 0.5 and 4.1 +/- 1.3 per 10(4) involving 1pter and (b) 0.9 +/- 0.4 and 0.8 +/- 0.3 per 10(4) involving 1cen, respectively. The frequency of sperm exhibiting breaks within the 1cen-1q12 region was 14.1 +/- 1.2 per 10(4). Structural aberrations accounted for 71% of the abnormalities detected by sperm ACM, which was significantly higher than numerical abnormalities (P=2x10-8). Our findings also suggest that, for healthy men, (a) sperm carrying postmeiotic chromosomal breaks appear to be more prevalent than those carrying products of premeiotic or meiotic breakage or rearrangements, (b) the high frequency of chromosome breaks measured after "fertilization" by the hamster-egg cytogenetic method already appear to be present and detectable within human sperm by FISH, and (c) there are nonrandom and donor-specific distributions of breakpoint locations within 1q12 in sperm. FISH facilitates the analysis of much larger numbers of sperm than was possible when the hamster-egg method was used. Therefore, FISH-based procedures for simultaneously detecting chromosomal breaks, rearrangements, and numerical abnormalities in sperm may have widespread applications in human genetics, genetic toxicology, and reproductive medicine.

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“…Another characteristic of this region is its involvement in deletions in lymphocytes (Dutrillaux et al 1977;Marlhens et al 1986). It is also commonly involved in rearrangements induced by alkylating agents (Kucerova and Polivkova 1976;Kaina 1977;Meyne and Lockhart 1978;Meyne et al 1979;Reeves and Margoles 1974;Mamuris et al 1989a) but not by ionizing radiations. The possible mechanisms responsible for these rearrangements are discussed.…”

Section: Introductionmentioning

confidence: 98%

Identification of a break-prone structure in the 9q1 heterochromatic region

1991

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The unusual behaviour of the 9q1 human chromosome region is studied in various conditions. In controls with normal chromosomes 9, del(9q1) is the most frequent spontaneously occurring deletion. This deletion is highly inducible by melphalan, an S phase-dependent alkylating agent. This may correspond to the uncovering of pre-existing DNA breaks in this region. In a 46,XX,9qh+ control, melphalan does not induce deletions any more efficiently than in donors with normal chromosomes 9. In a 46,XY,inv(9) (p11q1205) donor, all deletions of inv(9) affect the short, but not the long, arm. This indicates that the sensitive segment is not the whole heterochromatic region, but rather a limited structure. The high rate of rearrangements affecting this structure may be responsible for somatic crossing over, leading to loss of heterozygosity for 9q, and to the frequent occurrence of inv(9) in human populations.

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Banding technique used for the detection of chromosomal aberrations induced by radiation and alkylating agents TEPA and epichlorohydrin

Cited by 50 publications

References 17 publications

Specific chromosomal mutagenesis observed in stimulated lymphocytes from patients with S‐ANLL

Specific chromosomal mutagenesis observed in stimulated lymphocytes from patients with S‐ANLL

Multicolor FISH Analysis of Chromosomal Breaks, Duplications, Deletions, and Numerical Abnormalities in the Sperm of Healthy Men

Identification of a break-prone structure in the 9q1 heterochromatic region

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