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Biomedical subjects

B Dutrillaux

Publications and source records attributed to B Dutrillaux.

At least 289 records · Page 16Linked to original sources
PubMed1987

Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia.

Congenital adrenal hypoplasia (CAH) and glycerol kinase deficiency (GKD) were diagnosed in a male during the neonatal period. On prometaphase chromosomes there was an interstitial deletion involving Xp21.2 and possibly Xp21.3 in the propositus and his mother. Duchenne muscular dystrophy (DMD) was excluded on the basis of normal serum creatine kinase and a muscle biopsy. Molecular hybridization of DNA from the propositus with 11 probes covering Xp21, including the DMD locus, was normal. In situ hybridization with the probe pERT87.15 showed a normal signal at the expected site indicating that the DMD locus was preserved and not translocated. This suggests that the DMD locus is located at the most proximal part of the sub-band Xp21.2 or in Xp21.1, and that the DXS68 (probe L1) is far from it on the distal flanking DNA.

Adrenal Insufficiency↗
PubMed1987

Different reactivity of Z-DNA antibodies with human chromosomes modified by actinomycin D and 5-bromodeoxyuridine.

Antibodies against Z-DNA react with fixed metaphase chromosomes of man and other mammals. Indirect immunofluorescence staining shows that chromosomal segments corresponding to R- and T-bands preferentially fix Z-DNA antibodies. In this work Z-DNA antibodies were used as a probe for DNA conformation in euchromatin of fixed human chromosomes whose condensation or staining were modified by actinomycin D (AMD) and by 5-bromodeoxyuridine (BrdU). Treatments with AMD and BrdU were performed to induce a G-banding by modification of chromosomal segments corresponding to R- and T-bands. Long BrdU treatments were used to induce asymmetrical and partially undercondensed chromosomes by substitution of thymidine in one or both DNA strand. Our results show a clear difference of Z-DNA antibodies reactivity after AMD or BrdU treatment. The G-banding obtained after AMD treatment is not reversed by Z-DNA antibodies staining since these antibodies bind very weakly to the undercondensed R-bands. On the other hand, the G-banding obtained by BrdU is completely reversed giving typical R-banding, as on untreated chromosomes. For asymmetrical chromosomes an R-, T-banding pattern is always observed but there is a decrease of the fluorescence intensity proportional to the degree of BrdU incorporation. We conclude that AMD treatment greatly disturbs Z-DNA antibodies binding suggesting a change in DNA conformation, whereas BrdU treatments do not suppress but only weaken the specific binding of Z-DNA antibodies on R- and T-bands. The direct involvement of thymidine substitution in DNA sequences recognized by Z-DNA antibodies is discussed.

Antibodies↗
PubMed1987

Qualitative study of chromosomal lesions induced by neutrons and neon ions in human lymphocytes at G0 phase.

Chromosomal lesions, mitotic index and cell cycle progression delay induced by neutron (protons 34 MeV on beryllium) and neon (250 MeV/i) particles are studied in human lymphocytes. The cell cycle progression is slightly decreased at a dose of 1 Gy. Mitotic indexes are significantly decreased after irradiation by the different particles, except neon in 52-h cultures. By comparison to chromosome damages caused by gamma-rays, previously published, it is found that the lesions observed here are frequently more complex: the number of breaks is higher per abnormal mitosis and higher per rearrangement on the average. This complexity is higher for neon ions than for neutron beams.

Cell Cycle↗
PubMed1987

Noninvolvement of a constitutional heritable fragile site at 10q24.2 in rearranged chromosomes from rectal carcinoma cells.

A fragile site in chromosome band 10q24.2 was found in the lymphocytes of a patient ascertained for rectal carcinoma. The karyotype of 110 R-banded tumor cells was performed, showing two stemline formulas: 46,XXY,-1,-18,+20,der(6),t(1;6)(q21.1;q22.3),i(17q) and 46,XY,-1,-18,+8,+20,der(6),t(1;6),del(2)(p1600p22),i(17q). These findings are in agreement with our previous studies, which reported that the rearrangement of chromosome #17 and the loss of chromosome #18 are recurrent anomalies in colorectal carcinomas. In addition to these rearrangements, other anomalies were occasionally observed in tumor cells, but no breakages nor rearrangements involving band 10q24.2. The relationships between fragile sites and cancer breakpoints are discussed.

Chromosome Banding↗
PubMed1987

Characteristic chromosomal imbalances in 18 near-diploid colorectal tumors.

The cytogenetic study of 18 near-diploid colorectal tumors shows that the observed numerical and structural abnormalities resulted in recurrent chromosomal losses and gains. By order of decreasing frequencies, they are: monosomy 17p (16/18), partial or more frequently complete monosomy 18 (14/18), trisomy 20q (11/18), trisomy or tetrasomy 13 (10/18), monosomy lp and trisomies X and 8q (9/18). The absence of recurrent breakpoints in euchromatin contrasts with the high preponderance of breakage at various places of heterochromatic region. Because these tumors are characterized by very recurrent chromosomal imbalances, it is assumed that the observed chromosomal changes may be related to a recessive genetic determinism and to gene dosage imbalances.

Adult↗
PubMed1987

Cytogenetic study of twelve human near-diploid breast cancers with chromosomal changes.

The karyotypes of 12 fresh breast cancers, including two of the male, selected for their near-diploidy and their slight number of anomalies, i.e. less than 10 rearranged chromosomes, are reported. A clonal evolution could be demonstrated in 4 cases. Most of chromosomal imbalances result from structural rearrangement, frequently after breakage in juxtacentromeric heterochromatin. There does not seem to exist a specific breakpoint, but many of the imbalances are recurrent. They are, by decreasing order of frequency: gain of 1q, (7 cases), losses of 11q, 16q and 1p (5 cases), losses of 8p and 13q (4 cases), gain of 8q and losses of 6q and 17p (3 cases). None of these anomalies can be regarded as primary, but they are likely to be selected because they confer a slight selective advantage for the carrier cells during the tumoral progression.

Breast Neoplasms↗
PubMed1987

Recurrent HSR in the centromeric region of chromosome 8 in breast cancer.

In a sample of 44 human breast cancers, the presence of HSRs was detected in 15 cases (36%). The occurrence of HSRs seems correlated poorly with tumor progression, but the number of HSRs per cell certainly does. Chromosome 8 was the most frequently involved, and the HSRs were always located near its centromere, suggesting that an amplification of gene(s) located in this region has occurred. Among these, LHRH is a candidate, but further studies are needed to confirm or reject this hypothesis.

Breast Neoplasms↗
PubMed1987

[Ploidy in colorectal cancer].

For several authors, DNA tumoral cell content represents an important prognostic factor in colorectal cancer. Samples obtained from 65 human colorectal cancers operated on between 1983 and 1986 were studied. Of 52 cases studied by flow cytometry 60 p. 100 were aneuploid tumors. The proliferative index was calculated in slightly over 50 p. 100 of the cases by DNA histogram analysis. During the same period 30 tumoral karyotypes were established by cytogenetic analysis. In 17 cases a comparison was possible between flow cytometry and cytogenetic results. In all cases a significant correlation was seen between the DNA histogram modal value and the mean number of chromosomes counted by cytogenic analysis. In this study, there was no statistical correlation between flow cytometry results and Dukes classification. Because of the short follow-up in our series, no prognostic value may be attributed to the DNA index.

Adult↗
PubMed1986

Imbalance of sex chromosomes, with gain of early-replicating X, in human solid tumors.

An imbalance of sex chromosomes was observed in several cases of solid tumors: colorectal, anal canal and breast carcinomas. Replication studies, using BUdR incorporation, show that in males there is a tendency towards a gain of early-replicating X and a deficiency of Y chromosomes. In females, there is a tendency towards a gain of early-replicating X and a loss of late-replicating X chromosomes. Although almost no replication studies have been published in the literature, making it impossible to distinguish between late- and early-replicating Xs, it is likely that a similar situation exists for several solid tumors other than those we have studied. A possible consequence of this imbalance is briefly discussed.

Anus Neoplasms↗
PubMed1986

Chromosomal study demonstrating the clonal evolution and metastatic origin of a metachronous colorectal carcinoma.

Detailed cytogenetic studies were performed on 3 samples of a metachronous rectal carcinoma. Two samples were obtained from the primary tumor, and one from a secondary growth which arose 10 months after surgical removal of the primary. All 149 R-banded metaphases analysed were abnormal and most likely derived from the same modified karyotype: 45, XY, -1, -18, +20 der(6) t(1;6) (q21.100;q22.3), i(17q). These data are consistent with our previous findings that the loss of chromosome 18 and of the short arm of chromosome 17 may be the primary chromosomal changes associated with carcinoma of the large bowel. From all the karyotypes observed, a typical clonal evolution could be reconstructed, indicating that the second tumor was indeed metastatic from the first one, based on similar chromosome markers. An identical secondary chromosomal anomaly, i.e. gain of chromosome 8 or X, occurred independently twice in two different cell populations during the evolution of this tumor.

Carcinoma↗
PubMed1986

Trisomy and tetrasomy for long arm of chromosome 1 in near-diploid human endometrial adenocarcinomas.

Karyotypic analysis by R-banding after short-term culture, carried out on 7 cases of human endometrial adenocarcinoma, showed in 4 of these a trisomy or a tetrasomy for the long arm of chromosome I. In the 4 cases, these imbalances were due to rearrangements involving centromeric or para-centromeric break-points: 46,XX,-16, +der(1q16p) t(1;16)(1p16q;1q16p); 46,XX,-21, +der (1q21q)t(1;21) (1p21p;1q21q); 46,XX, -21, +der(21) t(1;21)(q11;p13); 48, XX, +2, +i(1q). Two other cases showed only a numerical aberration: 47, XX, +10 and 47, XX, +12. In the last case, only cells with apparently normal karyotype were seen. In the 4 cases with an anomaly of chromosome I, two normal I chromosomes coexisted with abnormal elements. This shows that the rearrangement very likely occurred in G2 phase of the cell cycle.

Adenocarcinoma↗
PubMed1986

Nucleotide sequence of an heterochromatic segment recognized by the antibodies to Z-DNA in fixed metaphase chromosomes.

The purpose of this work was to analyse at the molecular level the DNA recognized by the antibodies to Z-DNA in in situ experiments. Antibodies to Z-DNA interact strongly with R-band positive heterochromatic segments of fixed metaphase chromosomes of Cebus (Viegas-Pequignot et al., 1983). These segments are constituted of a satellite DNA the repeat unit of which is about 1520 base pairs long. The base sequence of the repeat unit has been determined. It contains a (AC)n rich region which, in vitro, adopts the Z conformation under topological constraints. Experiments with nuclei suggest that this sequence is not predominantly in the Z conformation in vivo. The polymorphic structure of the (AC)n rich region argues for an active recombination sequence.

Animals↗
PubMed1986

New data on clonal anomalies of chromosome 14 in ataxia telangiectasia: tct(14;14) and inv(14).

From a series of 53 patients with ataxia telangiectasia, two large clones with a t tan or tct(14;14) and two with an inv(14) were observed among phytohaemagglutinin (PHA)-stimulated lymphocytes. Smaller clones with the same inv(14) were observed in two other cases. Similar breakpoints may exist, both for t(14;14) and inv(14): q11.1/q11.2 and q32, and it is postulated that the rearrangements are related to a recombination of the alpha-chain of the T-cell receptor and IgH clusters of genes.

Adolescent↗
PubMed1986

A possible new type of chromosome rearrangement: telomere-centromere translocation (tct) followed by double duplication.

The reassessment of a case of complex interchromosomal rearrangement after breakage at centromeric and telomeric regions, and the comparison with four other independently published cases suggested the existence of a new type of rearrangement. It would consist of: formation of an isochromosome after breakage at a centromeric region, duplication of the telomeric region of another chromosome, and reassociation of the nonduplicated arm of the first chromosome with the duplicated telomeric region of the second chromosome.

Centromere↗
PubMed1986

De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy.

The single X chromosome of a girl with Turner syndrome (45,X) and typical Duchenne muscular dystrophy was investigated at the chromosomal and DNA levels. No visible abnormality of the residual X chromosome was found upon high-resolution R-banding. The DNA was analysed by Southern blotting and hybridization with seven cloned probes mapping in the Xp21 region where the Duchenne locus is thought to be located. A molecular deletion was detected with probes pERT 87.1, pERT 87.8, and pERT 87.15. The other probes (754, C7, 99.6, and RC8) gave a normal signal. The DNA alleles seen in the two parents indicated that the deletion found in the propositus had occurred de novo on a maternal X chromosome.

Adolescent↗
PubMed1986

Probable involvement of immunoglobulin superfamily genes in most recurrent chromosomal rearrangements from ataxia telangiectasia.

From the chromosomal analysis of 9461 lymphocytes from 57 patients affected by ataxia telangiectasia, it is concluded that bands 7p14, 7q35, 14q12, and 14qter, which are frequently recombined in rearrangements are also too frequently involved in rearrangements with a few other chromosome sites. Among these sites, the most frequently involved are bands 2p11, 2p12, 22q12, and 22q13.2, or the proximal parts of adjacent R-bands. The same rearrangements were observed in a large series of control lymphocytes but their frequencies were much lower than in ataxia telangiectasia. All these recurrent sites of rearrangements, except 22q13.2, are known to be near or at immunoglobulin genes or partially homologous genes like T-cell receptor genes and antigen Leu-2/T8. It is supposed that the rearrangements observed correspond to the visualization at the chromosomal level of illegitimate rearrangements between these genes, and by analogy, that another similar structure may exist on band 22q13.2.

Ataxia Telangiectasia↗
PubMed1986

In situ hybridization of an acetylaminofluorene-modified probe recognized by Z-DNA antibodies in vitro.

An in situ hybridization procedure, based on the chemical modification of DNA by acetylaminofluorene (AAF), followed by a specific immunoreaction was used to localize a Z-DNA sequence isolated from the satellite DNA of Cebus appella. The AAF probe is localized on the R-band-positive heterochromatic segments of Cebus chromosomes, which strongly react with Z-DNA antibodies. The use of a nonradioactive single-stranded labeled probe confirms the reliability and the rapidity of immunochemical methods for the detection of DNA sequences on chromosomes.

2-Acetylaminofluorene↗