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1.
Summary We propose an objective scoring of the quality of the banding of mitoses based on the number of bands (B), the length (L), and the width (W) of chromosome 7 in metaphase as used in the formula
. When no figure shows the quality of mitoses from which a breakpoint is described, this scoring could give information about it. It could be applied in cytogenetic cancer studies as well as for preparations with high resolution banding. 相似文献
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Marc-Henri Stern Fangrong Zhang Gilles Thomas Claude Griscelli Alain Aurias 《Human genetics》1988,81(1):18-22
Summary To delimit the 14q32.1 recurrent breakpoint of ataxia telangiectasia clones, we performed an in situ hybridization study with various probes located on the 14q32 band. We thus mapped this breakpoint between the D14S1 and Pi loci. Furthermore, an interstitial duplication including D14S1 and a part of the IgH locus was demonstrated on a t(14;14) clone. 相似文献
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Suzanne Demczuk Annie Lévy Muriel Aubry Marie-Françoise Croquette Nicole Philip Marguerite Prieur Ursula Sauer Patrice Bouvagnet Guy A. Rouleau Gilles Thomas Alain Aurias 《Human genetics》1995,96(1):9-13
We have determined the parental origin of the deleted chromosome 22 in 29 cases of DiGeorge syndrome (DGS) using a CA-repeat mapping within the commonly deleted region, and in one other case by using a chromosome 22 short arm heteromorphism. The CA-repeat was informative in 21 out of 29 families studied and the deleted chromosome was of maternal origin in 16 cases (72%). When these data are pooled with recent results from the literature, 24 de novo DGS, velo-cardio-facial syndrome (VCFS) and isolated conotruncal cardiac disease deletions are found to be of maternal origin and 8 of paternal origin, yielding a 2 of 8 with a probability level lower than 0.01. These data, and review of the literature on familial DGS/VCFS and isolated conotruncal cardiopathies suggest that there is a strong tendency for the 22q11.2 deletions to be of maternal origin. 相似文献
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B Dutrillaux M F Croquette E Viegas-Pequignot A Aurias J Coget J Couturier J Lejeune 《Cytogenetics and cell genetics》1978,20(1-6):70-77
Chain and ring chromosome configurations were detected in a small percentage of the lymphocytes of a patient suffering from Thiberge-Weissenbach syndrome. Precise recognition of the chromosomes involved in the rearrangements did not indicate a systematic order of end-to-end fusions. A relationship between these configurations and the chromosome arrangement in the interphase nucleus is possible. 相似文献
6.
The cell cycle of lymphocytes in Fanconi anemia 总被引:6,自引:0,他引:6
B. Dutrillaux A. Aurias Anne-Marie Dutrillaux D. Buriot Marguerite Prieur 《Human genetics》1982,62(4):327-332
Summary BrdU-incorporation techniques were used to study the cell cycle in 18 cases of Fanconi's anemia (FA).By comparison with controls, a significant slowing of the cell cycle of lymphocytes in vitro was observed in all FA patients, and possibly in FA heterozygotes, although to a lesser degree. It is probable that the demonstration of the slowing is dependent on the culture conditions. No slowing was observed in other patients affected by at least one of the symptoms of FA. The slow cell cycle of FA cells is mostly due to a very long G2-phase. A relationship between slow cell cycle and chromatid anomalies exists, the slower cells being significantly more frequently carriers of radial figures than the faster cells, in the same patient. 相似文献
7.
5-Bromodeoxyuridine (BUdR)-induced segmentation and BUdR-induced asymmetry of the chromatids probably reflect a two-stage mechanism. The first stage consists of a BUdR substitution of the thymidine in the DNA during S period. The second stage, less obviously demonstrated, involves either alteration of chromosomal proteins or an imperfect association between substituted DNA and normal or abnormal proteins. This second stage takes place at different times, according to the type of chromatid modification: during S or G 2 period in the case of segmentation, and during G 1 in the case of asymmetry. One important implication of our experimental results is that the appearance of metaphasic chromatids is at least partly determined by the time of the G 1 period.L'induction d'une asymétrie, ou d'une segmentation des chromatides par un traitement au BUdR, résulte probablement d'un mécanisme à deux étapes distinctes. La première consiste en une substitution de la thymidine par le BUdR survenant lors de la replication de l'ADN. La seconde, plus difficile à mettre en évidence, consiste en une modification des protéines chromosomiques, ou en une mauvaise association entre les protéines, modifiées ou non, et l'ADN ayant incorporé le BUdR. Cette seconde étape est nécessairement différente selon la modification chromatidienne induite: elle se déroule en phase S ou G 2, en cas de segmentation, et en phase G 1 surtout, en cas d'asymétrie. Dans l'un et l'autre cas, la modification de l'association ADN-protéines pourrait être en rapport avec la régulation chromosomique. Une déduction importante de nos résultats expérimentaux est que l'aspect des deux chromatides métaphasiques dépend, au moins en partie, de la constitution de l'ADN dès la phase G 1. 相似文献
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Pierre Neuvial Philippe Hupé Isabel Brito Stéphane Liva élodie Manié Caroline Brennetot Fran?ois Radvanyi Alain Aurias Emmanuel Barillot 《BMC bioinformatics》2006,7(1):264
Background
Array-based comparative genomic hybridization (array-CGH) is a recently developed technique for analyzing changes in DNA copy number. As in all microarray analyses, normalization is required to correct for experimental artifacts while preserving the true biological signal. We investigated various sources of systematic variation in array-CGH data and identified two distinct types of spatial effect of no biological relevance as the predominant experimental artifacts: continuous spatial gradients and local spatial bias. Local spatial bias affects a large proportion of arrays, and has not previously been considered in array-CGH experiments. 相似文献9.
Olivier Delattre Carlos J. Azambuja Alain Aurias Jessica Zucman Martine Peter Fangrong Zhang Marie Claude Hors-Cayla Guy Rouleau Gilles Thomas 《Genomics》1991,9(4):721-727
The adenylosuccinate lyase (ADSL) which is essential for generating adenylate, maps to the long arm of chromosome 22. By using a Chinese hamster ovary cell line deficient in ADSL activity, we have constructed a set of 17 somatic cell hybrids containing defined regions of human chromosome 22. This panel was extended with six additional hybrids, obtained in other laboratories using various methods of selection. Southern analysis of the hybrids with 38 chromosome 22 probes defined 14 different subregions which could be linearly organized on the long arm of chromosome 22. The order of the probes thus deduced is fully compatible with their previous localization and with the genetic map. The ADSL gene was further sublocalized between the MB and D22S22. This panel, which enables the rapid assignment of chromosome 22 single copy probes to small subregions, will be an important tool in the construction of a detailed physical map of this part of the genome. 相似文献
10.
J. L. Huret J. M. Delabar F. Marlhens A. Aurias A. Nicole M. Berthier J. Tanzer P. M. Sinet 《Human genetics》1987,75(3):251-257
Summary We report the case of an 18-month-old boy with many typical Down syndrome features but a normal cytogenetic analysis. High-resolution banding techniques on lymphocytes and fibroblasts of the propositus and his parents did not show any detectable abnormality including that of trisomy 21 mosaicism. However, CuZn superoxide dismutase (CuZn SOD) in the patient's red cells was increased as in trisomy 21. DNA analysis (Southern blots) using a human CuZn SOD probe showed that the genotype of the propositus contained three CuZn SOD genes. In situ hybridization on metaphase chromosomes with the same probe confirmed the gene location in a segment enclosing the distal part of 21q21 and 21q22.1. There was no significant labeling on other chromosomes of the patient. These results indicate that the Down syndrome phenotype of this patient is due to microduplication of a chromosome 21 fragment containing the CuZn SOD gene. 相似文献