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Results for “chromosomal analysis”

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At least 145 records · Page 8Linked to original sources
PubMed1980

Chromosome analysis in a human hepato-blastoma cell line producing alpha-fetoprotein.

Analysis of the chromosomes of a cloned human hepato-blastoma cell line, HUH-6-clone 5 by Q-, G- and C-banding revealed numerical and structural chromosome aberrations. The modal number of chromosomes was 49. Trisomies #12 and 20 were present in most of the cells, and 8q isochromosome was detected in all of the cells analyzed. High levels of alpha-fetoprotein production by this cell strain were also demonstrated.

Carcinoma, Hepatocellular↗
PubMed1987

[G-banded chromosome analysis of bone marrow and peripheral blood cells from small cell lung cancer (SCLC) patients].

Detailed G-banded chromosome analysis was carried out on the bone marrow and/or PHA-stimulated peripheral blood cells from 17 SCLC patients (14 males and 3 females), who were diagnosed cytologically or pathologically or both. Twelve of them had no prior treatment and 16 had a heavy smoking history. High chromosome aberration rates were found in the bone marrow (31% for average structural aberration rate and 63% for numerical aberration rate) and peripheral blood cells (37% for average structural aberration rate and 49% for numerical aberration rate). The smoking index, as a whole, was positively correlated to the structural chromosome aberration rate, indicating that smoking is one of the most important environmental factors in causing chromosome aberrations. But some patients gave a high aberration rate dis-proportional to their smoking index, suggesting that genetically determined susceptibility to smoking or even other factors also play an important role. The structural chromosome aberrations in the bone marrow and peripheral blood cells were mainly clustered on chromosome 3 and chromosomes 1, 9 and 11, respectively. The aberration types were manifold and complicated. No consistent or specific aberration as del 3p14-23 for SCLC was found in this study.

Bone Marrow↗
PubMed1994

Chromosome analysis in pleural effusions. Efficiency of this method in the differential diagnosis of pleural effusions.

Various laboratory methods are being used to acquire diagnosis in pleural effusions. However, about 20% of the effusions cannot be diagnosed reliably. Cytogenetic analysis in pleural effusion is not used routinely, although many numerical and/or structural chromosome abnormalities have been observed in malignant pleural effusions. In this study, a total of the 61 pleural effusion samples, 34 malignant which included 19 diffuse pleural malignant mesothelioma, 15 metastatic malignant pleural effusions and 27 benign, were analyzed by direct chromosome analysis method. To the findings obtained in the study, 85.3% (29/34) of the 34 patients with malignant pleural effusion had numerical and/or structural abnormalities, and 3 of them had no mitosis. The patients who had benign pleural effusion indicated no numerical and/or structural abnormalities. We have concluded that if a pleural effusion cannot be reliably differentiated by the usual laboratory methods and especially malignancy is strongly suspected, cytogenetic analysis can be used to differentiate malignant effusions from benign effusions with a small rate of error, and also it can indicate that more invasive diagnostic procedures are necessary.

Adult↗
PubMedDate not supplied

[Chromosome analysis performed in 176 cases of pleural effusions of various types].

Reference is made to the results of a chromosome analysis conducted on pleural liquid sediments in 71 cases of neoplastic effusion and 105 transudative and inflammatory cases. Numeric and morphological karyotype alterations conclusively indicative of the neoplastic origin of the effusion were observed in 79% cases where a tumour was actually present, and in none of the non-neoplastic cases. The diagnostic sensitivity of the examination was compared with that of the Pap-test, which gave positive results in 63% of cases. When both methods were used, diagnosis was possible in 90% of cases. Some suggestions are made for checking with other studies on the possibilities offered by chromosome as a means of prognosis as well as diagnosis.

Chromosome Aberrations↗
PubMed1987

Chromosome analysis of human oocytes failing to cleave after insemination in vitro.

Seventy-six human oocytes lacking signs of fertilization 48 h after insemination in vitro were fixed for chromosome analysis. Only one out of 61 oocytes showed mitotic chromosomes indicating fertilization. Thus, non-cleavage is almost synonymous with non-fertilization. Chromosomes in second meiosis were found in 60 oocytes, of which 52 (86.7%) were analysable. Of these, only 18 (34.6%) displayed an apparently normal 23,X karyotype. Fifteen preparations showed no chromosomes at all but some contained small nuclei, most likely due to degeneration. An earlier stage of degeneration could be represented by a group of second meiosis oocytes (20.0%) carrying between 10 and 18 chromosomes. The large proportion of chromosome abnormalities in this sample might have been due to the fact that the oocytes were unfertilized and perhaps that abnormal oocytes had matured due to ovarian stimulation.

Adult↗
PubMed1991

Chromosome analysis of multipronuclear human oocytes after in vitro fertilization.

Multipronuclear human eggs are frequent after in vitro fertilization. Their chromosome analysis can provide useful information. Before cleavage it can confirm the suspected polyploidy. Among the cleaved multipronuclear eggs it provides an estimation of the incidence of the possible return to diploidy. Ninety-four multipronuclear eggs were fixed at the first, second, or third cleavage according to the air-drying method of Tarkowski with or without colchicine exposure: 60 were successfully analysed. Twelve were stopped before cleavage (six without colchicine treatment and six with colchicine treatment). They were polyploid, confirming the cytological observation. Forty-eight eggs cleaved and were stopped by colchicine treatment and karyotyped. Seventeen eggs (35 per cent) had produced diploid embryos. Mosaicism was frequent (15 cases, 31 per cent). Triploidy was not frequent (8 eggs, 17 per cent). Haploidy constituted the remaining cases (8 eggs, 17 per cent). Our data indicate that the initial count of pronuclei is a reliable test. Multipronuclear one-cell oocytes were confirmed to be polyploid. Furthermore, the developmental capacity of the multipronuclear oocytes is variable. Most of them cleaved. However, many multipronuclear oocytes led to diploid cleaving eggs.

Adult↗
PubMed1977

Chromosomal analysis of DDT-resistance in a long-term selected population of Drosophila melanogaster.

The genetic basis of DDT-resistance was studied in a population of Drosophila melanogaster. This population was unique in that it had been continually selected for DDT-resistance since 1952 and had achieved a very high level of resistance. The genetic basis of resistance was studied by means of a chromosomal analysis. Fifteen combinations of resistant and control chromosomes were tested using a time-based DDT test. The analysis of the data showed that resistance was multifactorial with each of the three major chromosomes involved. Dominant and recessive second and third chromosome effects were found to be much more important than those of the first chromosome, which had no detectable recessive effects. Second and third chromosome resistance genes showed incomplete dominance. The average dominance of the second chromosome was much less than that of the third chromosome. These large-scale differences between chromosomes' effects and average dominance may indicate that a small number of resistance genes are involved. Two significant interactions between chromosomes were found. Scaling difficulties make the interactions difficult to interpret without further data. It seems possible that positive interactions between resistance have been developed by the long-term directional selection in this population.

Animals↗
PubMed2001

[Validity of chromosome analysis and bleomycin sensitivity assay in the prevention of head and neck cancer in Hungary].

Because of unfavourable cancer mortality statistics of Hungary, the search of different biomarkers is one of the most important demands of the national primary cancer prevention programme. The aim of this study was to clarify the usefulness of bleomycin sensitivity assay elaborated in the USA, and to find whether it serves under our environmental conditions as a biomarker of individual sensitivity and risk for head and neck cancer, beside chromosomal aberration analysis. The test reflecting mutagen sensitivity is based on the mean values of chromatid breaks induced by bleomycin in vitro in a single lymphocyte (break/cell = b/c). Since cancer formation is influenced by environmental mutagens, in contrast to others, their 111 head and neck cancer patients were matched not only with 230 healthy controls (106 nonsmokers and 124 smokers), but also with 44 strong alcoholic and smoking patients with liver diseases whose lifestyle did not differ from that of the cancer patients. According to the results of conventional chromosome analysis, the aberrant cell frequency was the highest in the cancer patients (3.34%), while in the alcoholics (2.73%) and healthy smokers (2.88%) the values were similar. Thus, the genetic instability occurring in the form of elevated rate of spontaneous chromosomal aberrations was mostly expressed in head and neck cancer patients. Mutagen sensitivity measured by the b/c values of bleomycin assay was significantly higher in both the cancer (1.16 b/c) and the alcoholic patients (1.34 b/c) compared with the controls (1.0 b/c). The bleomycin sensitivity assay, therefore, seems to be the biomarker not only of cancer, but also the disease of the same etiology such as alcohol-related liver disease. However the method is not suitable for the assessment of individual cancer risk because of the high variability of b/c values in each group, and their considerable overlapping with the controls. It can also be supported with extremely high mutagen sensitivity of Hungarian controls (63 and 67%), which is three-fold of US values (23%). The bleomycin sensitivity assay is not a selective biomarker if comparing to the controls, probably due to the action of more complex exposures under Hungarian environmental conditions. When estimating cancer risk, the results of conventional chromosome analysis offer more information than bleomycin sensitivity assay.

Adult↗
PubMed1986

A pulse generator simulating slit-scan chromosome analysis signals.

A simple circuit is described for generating a variety of electronic pulses to test hardware and software for slit-scan chromosome analysis in a flow cytometer. The pulse shape can be changed to have different numbers of local minima, thereby simulating fluorescence pulses from acrocentric, monocentric, and dicentric chromosomes. Long pulses simulate aggregates of chromosomes. The pulse repetition rate as well as the pulse amplitude is variable. Although the circuitry is built with only three integrated circuits, the pulse-to-pulse variation in shape and height is quite small. After digitization of the analog signals, the constructed histograms of pulse integrals show a relative coefficient of variation below 1%. This signal generator provides a valuable tool for a number of electronic test applications that would otherwise require expensive standard particles analyzed in a well-tuned flow cytometer.

Animals↗
PubMed1981

[Prenatal sex determination via GBN saliva test. A comparison with the results of prenatal chromosomal analysis].

In 114 pregnant women the results of the GBN saliva test were compared with the results of sex determination by prenatal chromosomal analysis. GBN test results predicting boys corresponded in 40,7% of the cases with male karyotypes, whereas test results predicting girls corresponded in 56,5% with female karyotypes. Mean age of the women tested was 35,9 +/- 3,6 years. The test results in women aged 35 or younger did not show a better correlation with the chromosomal sexing than in older women (46,5% and 48,4%). Saliva tests performed in the 16th to 20th week of gestation corresponded to the same extent with the chromosomal sex of the fetuses as those performed in the 21st to 32nd week of gestation (48,5% and 46,2%). The mode of ascertainment of the pregnant women and other factors possibly influencing the results are discussed. It is concluded that the GBN saliva test is not suitable for prenatal sex prediction in women of the age group investigated.

Adult↗
PubMed1997

Retrospective biodosimetry of Chernobyl clean-up workers using chromosome painting and conventional chromosome analysis.

Blood samples of 52 Chernobyl clean-up workers were analysed by fluorescence in situ hybridization (FISH) using whole-chromosome painting probes for chromosomes 1, 4 and 12, simultaneously with a pancentromeric probe and by conventional chromosome analysis, for radiation-induced symmetrical translocations and dicentrics in T-lymphocytes. Based on FISH measurements of translocations, individual biodosimetry estimates between 0.32 and 1.0 Gy were obtained from 18 cases. Pooled data for the total group of 52 workers provided a collective biodosimetry estimate of 0.23 Gy. For a group of 34 workers with documented doses, the mean dose estimate of 0.25 Gy compared well with the mean documented dose of 0.26 Gy. However, no correlation between individual translocation frequencies (FG) and documented doses could be found. A statistical analysis of the expected dose-response suggests exposures to higher doses than documented for a substantial fraction of workers with ascribed doses < 0.2 Sv. For subjects working repeatedly at the reactor site between 1986 and 1995 the mean translocation frequency was significantly higher than for those working only in 1986. A comparison of dicentric frequencies obtained by conventional scoring and by FISH measurements showed no significant difference, although only two of 52 cases revealed significantly higher yields than the mean control level. Based on conventionally scored dicentric frequencies, a collective biodosimetry estimate of 0.23 Gy could be derived only of the group of persons working at Chernobyl exclusively in 1986 for which a documented average dose of 0.19 Gy was reported.

Adult↗
PubMed1978

Chromosome analysis of bone marrow samples from country patients.

Co-operation by outside centres has made it possible to offer bone marrow chromosome analysis to patients living up to 1800 kilometres from the central cytogenetics laboratory. Diagnostic karyotypes have been obtained in 9 of 10 bone marrow specimens which were partially processed before being transported to the city laboratory for final analysis.

Australia↗
PubMed1998

Establishment, characterization, and chromosomal analysis of new leukemic cell lines derived from MT/p210bcr/abl transgenic mice.

The p210bcr/abl chimeric protein is implicated in the pathogenesis of Philadelphia chromosome-positive human leukemias. Previously, we generated transgenic mice expressing p210bcr/abl by the metallothionein enhancer/promoter (MT/p210bcr/abl) and observed that these mice reproducibly developed T cell leukemia. In this report, we describe the establishment, characterization, and chromosomal analysis of two novel leukemic cell lines derived from MT/p210bcr/abl leukemic mice. Both cell lines carried the transgene and showed the same gene rearrangement patterns as observed in the parental leukemic cells. Expression, tyrosine-phosphorylation, and enhanced kinase activity of the p210bcr/abl were also detected. RT-PCR/SSCP for p53 transcript revealed that one of the cell lines carried a mutation, in contrast to the normal pattern shown by the parental leukemic cells. In addition, the other cell line showed a karyotype of trisomy 15. These results suggest that the p53 mutation and chromosomal abnormality may confer a proliferative ability on leukemic cells in vitro. These new cell lines are considered to be a valuable model not only for examining the biologic properties of p210bcr/abl but also for investigating the malignant process that promotes the proliferation of the leukemic cells expressing p210bcr/abl. Furthermore, these cell lines could be used in therapeutic studies, including adoptive immunotherapy.

Animals↗
PubMed2001

Testicular ultrasonography and extended chromosome analysis in men with nonmosaic Klinefelter syndrome: a prospective study of possible predictive factors for successful sperm recovery.

OBJECTIVE: To investigate whether extended chromosome analysis or testicular sonography, including flow Doppler imaging, before diagnostic testicular sperm extraction have predictive value for successful sperm retrieval in men with nonmosaic Klinefelter syndrome. DESIGN: Prospective clinical study. SETTING: IVF clinic and genetics laboratory at a university hospital. PATIENT(S): Nineteen patients with nonmosaic Klinefelter syndrome and azoospermia. INTERVENTION(S): Collection of blood samples; histopathologic examination of testicular tissue; fluorescence in situ hybridization; sonography, including Doppler imaging; and testicular sperm extraction. MAIN OUTCOME MEASURE(S): Testicular volume, serum FSH and serum testosterone levels, percentage of normal XY cells, ultrasound echogenicity, intratesticular blood flow resistance, and sperm recovery. RESULT(S): Testicular volume and levels of serum FSH and serum testosterone levels did not differ significantly. No differences in testicular echogenicity or intratesticular blood flow resistance were found between 47,XXY men in whom sperm recovery was successful and those in whom sperm recovery failed. Significant differences were seen between all patients with the Klinefelter syndrome and controls with normal sperm values. Fluorescence in situ hybridization of peripheral lymphocytes and buccal tissue showed no correlation between frequency of normal 46,XY cells and testicular spermatogenesis. CONCLUSION(S): In azoospermic men with the Klinefelter syndrome, histopathologic findings seem to be predictive for successful sperm recovery. Infertility work-up, including diagnostic testicular sperm recovery, is recommended, and, if possible, viable sperm should be cryopreserved.

Adult↗
PubMed1988

Sperm chromosome analysis to assess potential germ cell mosaicism.

Human sperm chromosome complements were examined to assess the possibility that the conceptions of two children with the same chromosomal defect, del(13)(q22q32), from chromosomally normal parents were the result of a paternal germ cell mosaicism. Analysis of 216 complements, both by quinacrine banding and by measuring the relative length of chromosome 13, showed no unusual subpopulation of 13s; this decreased the likelihood of a paternal origin of the deletion. Sperm chromosomal analysis is a useful adjunct to available techniques in clinical genetics. When counseling cases involving either structural or numerical de novo chromosome abnormality, it is of importance to discuss the possibility of germ cell line mosaicism as well as to offer prenatal diagnosis for subsequent pregnancies.

Abnormalities, Multiple↗
PubMed1999

Comparative chromosome analysis (R- and C-bands) of two South African murid species, Lemniscomys rosalia and Rhabdomys pumilio (Rodentia, murinae).

We carried out a comparative chromosome analysis (R- and C-bands) on two South African murid rodent species, Lemniscomys rosalia and Rhabdomys pumilio, whose banded karyotypes are reported here for the first time. The study revealed that, in spite of minor differences in diploid number and the number of autosomal arms (48 vs. 46 and 58 vs. 60, respectively), these species differ by at least 10 structural rearrangements, comprising seven Robertsonian translocations (two of which share monobrachial homology), two tandem translocations, and one pericentric inversion. Despite the high level of chromosomal differentiation observed, almost complete homologous banding patterns were detected between the two species. The present study therefore strengthens the hypothesis about the close phylogenetic affinities between L. rosalia and R. pumilio and their belonging to a set of genera referred to as "arvicanthine" rodents.

Animals↗