Showing papers on "Karyotype published in 1973"
TL;DR: An unsuspected abnormality in all cells from the nine patients with chronic myelogenous leukaemia has been detected with quinacrine fluorescence and various Giemsa staining techniques, suggesting that there may be a hitherto undetected translocation between the long arm of 22 and thelong arm of 9, producing the 9q+ chromosome.
Abstract: CELLS from nine consecutive patients with chronic myelogenous leukaemia (CML) have been analysed with quinacrine fluorescence and various Giemsa staining techniques. The Philadelphia (Ph1) chromosome in all nine patients represents a deletion of the long arm of chromosome 22 (22q−)1,2. An unsuspected abnormality in all cells from the nine patients has been detected with these new staining techniques. It consists of the addition of dully fluorescing material to the end of the long arm of one chromosome 9 (9q+). In Giemsa-stained preparations, this material appears as an additional faint terminal band in one chromosome 9. The amount of additional material is approximately equal to the amount missing from the Ph1 (22q−) chromosome, suggesting that there may be a hitherto undetected translocation between the long arm of 22 and the long arm of 9, producing the 9q+ chromosome.
4,103 citations
TL;DR: Mouse chromosomes banded by quinacrine mustard staining, by the ASG technique, or by Giemsa staining following trypsinization or chymotrypsinizing are described in detail.
Abstract: Mouse chromosomes banded by quinacrine mustard staining, by the ASG technique, or by Giemsa staining following trypsinization or chymotrypsinization are described in detail. Three hundred and twelve regions within the mouse karyotype can be distinguished and a simple system of nomenclature is proposed for naming these regions. This nomenclature is applied to discussion of the locations of the breakpoints of twenty translocations and of many specific gene loci.
321 citations
TL;DR: A thorough karyologic analysis of CHO chromosomes using autoradiographic replication patterns, as well as centromere band and Giemsa band analysis, demonstrates that only 8 of the 21 CHO chromosomes are normal when compared with euploid Chinese hamster chromosomes.
Abstract: Chinese hamster ovary cells (line CHO) have been used extensively for metabolic, genetic, and radiobiological studies with only a superficial appreciation for the degree of aneuploidy characteristic of the line. A thorough karyologic analysis of CHO chromosomes using autoradiographic replication patterns, as well as centromere band (C-band) and Giemsa band (G-band) analysis, is presented. Our results demonstrate that only 8 of the 21 CHO chromosomes are normal when compared with euploid Chinese hamster chromosomes. In the 13 altered chromosomes, we found evidence of translocations, deletions, and pericentric inversions. These altered chromosomes have been characterized with respect to both origin and destination of translocated material. With the exception of the X2 chromosome, essentially all of the euploid chromatin is present in CHO cells. Autoradiographic replication patterns show that the normal sequence of chromosomal DNA synthesis is altered. Some sites which replicate late in euploid cells replicate early in CHO, and several late-replicating chromosomes in CHO cells replicate in early- or mid-S in euploid material. These studies may serve to elucidate the observed differences in mutagenic behavior between euploid fibroblasts and CHO cells.
220 citations
TL;DR: Transfer of genetic information from isolated mammalian chromosomes to recipient cells has been demonstrated and colonies of cells containing hypoxanthine phosphoribosyl transferase appeared to represent progeny of individual cells that had ingested chromosomes, replicated, and expressed the hprt gene.
Abstract: Transfer of genetic information from isolated mammalian chromosomes to recipient cells has been demonstrated. Metaphase chromosomes isolated from Chinese hamster fibroblasts were incubated with mouse A9 cells containing a mutation at the hypoxanthine-guanine phosphoribosyl transferase (hprt) locus. Cells were plated in a selective medium, resulting in death of all unaltered parental A9 cells. However, colonies of cells containing hypoxanthine phosphoribosyl transferase (EC 2.4.2.8) appeared with a variable frequency of about 10-6 to 10-7. The enzyme from these cells was indistinguishable from that from Chinese hamster cells, as shown by DEAE-cellulose chromatography and gel electrophoresis, and differed clearly from the mouse enzyme. The colonies, thus, did not result from reversion of A9 parental cells to wild type, but appeared to represent progeny of individual cells that had ingested chromosomes, replicated, and expressed the hprt gene. These colonies differed from each other in stability of expression of the transferred gene.
214 citations
TL;DR: The chromosomes of two human males were identified by fluorescent banding, restained, and measured by scanning microscopy and computer analysis and the two variables, DNA content and DNA-based centromeric index, provided almost complete discrimination of chromosome types.
Abstract: The chromosomes of two human males were identified by fluorescent banding, restained, and measured by scanning microscopy and computer analysis. The two variables, DNA content and DNA-based centromeric index, provided almost complete discrimination of chromosome types. Some chromosomes showed significant differences in DNA content between the men, and for one man two pairs of chromosomes showed significant differences between homologs.
200 citations
TL;DR: Two new techniques of controlled thermic denaturation are described and especially show a staining of some terminal regions of chromosomes (terminal bands or T bands).
Abstract: Two new techniques of controlled thermic denaturation are described. They especially show a staining of some terminal regions of chromosomes (terminal bands or T bands). — The application of these techniques to translocations, hardly analysable by the other banding techniques, allow the precise location of juxtatelomeric break points.
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TL;DR: The chromosomes from the tumours of 10 cases of Malignant Lymphoma have been analysed in detail with the aid of recently developed chromosome banding techniques and cells with abnormal karyotypes were found which contained chromosme structural changes.
Abstract: The chromosomes from the tumours of 10 cases of Malignant Lymphoma have been analysed in detail with the aid of recently developed chromosome banding techniques.
TL;DR: It is shown that in several promising cases, the coincidence of a deletion and the familial segregation of an undetectable or “silent” allele has raised false hopes1.
Abstract: DEVELOPMENT malformations associated with gross chromosomal deletions are well known in man. Those cases in which the extent of the deletion can be defined accurately by chromosome banding techniques should provide an opportunity for identifying some of the gene loci located within the deleted segment. But the positive assignment of a gene locus to a particular region in the human karyotype does not seem to have been achieved by this method. In several promising cases, the coincidence of a deletion and the familial segregation of an undetectable or “silent” allele has raised false hopes1.
TL;DR: The four satellite DNAs from calf showed a strongly clumped distribution in interphase nuclei of both confluent and growing calf kidney cells in vitro, and preferentially situated at the centromeres of the autosomes.
TL;DR: It is concluded that the characteristic 14q+ marker, produced by the 8; 14 translocation, is a specific marker for B-cell lymphoproliferative disorders.
Abstract: Publisher Summary The chapter presents the nature, occurrence, and significance of the first specific marker chromosome discovered by means of chromosome banding technique: the 14q+ marker—a chromosome 14 with additional material at the end of the long arm. The 14q+ marker remains one of the most significant and interesting chromosomal findings in human tumor cytogenetics, but also perhaps the one most puzzling and perplexing. The chapter also presents a survey of chromosome aberrations identified with banding techniques in 1871 cases of premalignant and malignant disorders. The improved resolution that can be achieved with the use of chromosome banding techniques has made a great impact on the field of cancer genetics, especially on the search for specific and consistent changes. The incidence and type of origin of the different 14q+ marker chromosomes recorded have been described separately for each tumor type; they are: lymphoproliferatidvies orders, myeloproliferative disorder(MD), and solid tumors. The chapter concludes that the characteristic 14q+ marker, produced by the 8; 14 translocation, is a specific marker for B-cell lymphoproliferative disorders. This conclusion is supported by the following observations: the marker has been found only in Burkitt's Lymphoma (BL), Acute Lymphocytic Leukemia (ALL), Malignant Lymphoma (ML) and Chronic Lymphocytic Leukemia (CLL), all cases analyzed for cell surface markers are of B cell type, the marker has not been found in any T or null cell type of leukemia/lymphoma.
TL;DR: The centromere-telomere translocations of the Rhesus macaque, Macaca mulatta as discussed by the authors reduced three arms into two, reducing the number of chromosomes to 42.
Abstract: The diploid number of the Rhesus macaque, Macaca mulatta, is 42. All chromosomes are biarmed and all constitutive heterochromatins are centromeric. The diploid number of the African Green monkey, Cercopithecus aethiops, is 60. Again all chromosomes are biarmed, but seven pairs possess very short second arms which are heterochromatic. The heterochromatins of remaining chromosomes are centromeric. Using G-banding and deleting the heterochromatic short arms, the chromosomes of the African Green monkey can be artificially fused to reconstruct a karyotype of the Rhesus with only one pair of unmatched small metacentrics. In addition to the Robertsonian type of translocations, several sets of centromere-telomere translocations were found. The latter type of translocation reduced three arms into two. Thus the fundamental number can be changed by two mechanisms: growing extra heterochromatic arms and the centromere-telomere fusions.
TL;DR: The polytenic chromosomes of Proro-centrum micans are composed of circular chromatids twisted into an anortho-spiral arrangement.
Abstract: The polytenic chromosomes of Proro-centrum micans are composed of circular chromatids twisted into an anortho-spiral arrangement.
TL;DR: Human metaphase chromosomes were photooxidized in the presence of methylene blue and the chromosome banding patterns appeared to reflect DNA base composition, indicating the feasibility of a combined chemical-immunochemical investigation of the chemical organization of chromosomes.
Abstract: Human metaphase chromosomes were photooxidized in the presence of methylene blue, a process that destroys guanine residues in DNA. Indirect immunofluorescence showed that such chromosomes reacted with a cytosine-specific antibody revealing a consistent fluorescent banding pattern by which each chromosome could be identified. The observed fluorescent patterns were the reverse of those produced in formamide-denatured chromosomes treated with an antibody specific for adenine and of the patterns obtained with quinacrine and with Giemsa staining by the G-banding techniques. The patterns were identical to Giemsa R-banding patterns. The chromosome banding patterns, therefore, appeared to reflect DNA base composition, indicating the feasibility of a combined chemical-immunochemical investigation of the chemical organization of chromosomes.
TL;DR: In five cases (four standard trisomies and one translocation trisomy) it could be shown that the error occurred at first meiotic division in the mother.
TL;DR: The utility of the conventional karyotype and ideogram analysis has many limitations as discussed by the authors, and it is virtually impossible to determine paracentric inversions or reciprocal translocations of nearly equal portions without examining meiotic behavior.
Abstract: Publisher Summary This chapter explains that chromosome constitution of cells in vitro has been one of the most useful criteria for monitoring cell populations. Karyotypical analysis is useful for monitoring the normalcy of the cell populations under consideration. In all cytological preparations of animal cells, regardless of the method used, there are a certain proportion of ruptured cells. In heteroploid cell populations such as long-term cell lines where cells with many different chromosome numbers may exist, the elimination of artifacts becomes a difficult task. An idiogram is an idealized karyotype or a statistically representative karyotype. Therefore no single metaphase, whether it is the actual photograph or length measurements, can be considered as an idiogram. The utility of the conventional karyotype and ideogram analysis has many limitations. It is virtually impossible to determine paracentric inversions or reciprocal translocations of nearly equal portions without examining meiotic behavior. The difficulty has been partially removed by the recent inventions of many new procedures which would reveal characteristic chromosome bands.
TL;DR: It is shown that the preferential Giemsa staining of chromosome regions is a valuable tool for the localization of translocation and inversion points in the chromosomes of the reconstructed Vicia karyotypes.
Abstract: The Giemsa banding patterns of the standard karyotype of Vicia faba and of four new karyotypes with easily interdistinguishable chromosomes due to interchanges and inversions are described and compared with the data of other authors on preferential Giemsa staining in Vicia faba. All karyotypes contain 14 easily reproducible marker bands which characterize chromosome segments known to be heterochromatic. It is shown that the preferential Giemsa staining of chromosome regions is a valuable tool for the localization of translocation and inversion points in the chromosomes of the reconstructed Vicia karyotypes. A close correlation exists between banding patterns, segment extension by incorporation into chromosomal DNA of azacytidine and mutagen-specific clustering of induced chromatid aberrations in the new karyotypes.
TL;DR: A cytological analysis of the anuran species Xenopus tropicalis was performed, finding that the diploid chromosome number is 2n = 20, whereas two other Xenopus species previou are unknown.
Abstract: A cytological analysis of the anuran species Xenopus tropicalis was performed. The diploid chromosome number is 2n = 20, whereas two other Xenopus species previou
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TL;DR: Karyotype analyses using some of the newer staining techniques revealed a modal chromosome number of 45 with the presence of a ring, a large marker chromosome with an interstitial C-band, and at least five other structural rearrangements resulting in marker chromosomes.
Abstract: Summary A cell culture was established from a human malignant melanoma. Karyotype analyses using some of the newer staining techniques revealed a modal chromosome number of 45 with the presence of a ring, a large marker chromosome with an interstitial C-band, and at least five other structural rearrangements resulting in marker chromosomes. Most of these changes occurred in vivo since they were identifiable in the biopsy material 4 hr after the culture was initiated. They persisted in early and later subcultures. Although the culture grew slowly, the ring remained relatively stable while endoreduplication decreased and 2S stem cells increased with time.
Abstract: Polymorphism of Giemsa-specific centromeric heterochromatin (C.H.) has been described in the laboratory and wild mice. All examined wild mice and inbred mouse strains display some chromosomes with considerably reduced or enlarged C.H. regions. The quantity of C.H. could be an inherent property of a chromosome as inferred from (a) the finding of the identical C.H. pattern within inbred strains, (b) the finding that two genetically related inbred strains, C3H and CBA, separated from each other for more than 150 generations, possess the same two chromosome pairs with tiny C.H. marker regions. These chromosomes were identified as No. 1 (l.g. XIII) and No. 14 (l.g.III) by means of T(14;15)6Ca translocation, and C- and G-band analysis. The neutrality of C.H. polymorphism in murine genome is inferred from the “heterozygosity” for the C.H. variants found in all studied wild mice. The possible relationship of C.H. polymorphism to the centromere interference phenomenon is hypothesized.
TL;DR: A patient whose clinical manifestations suggested a diagnosis of Down's syndrome was shown by conventional chromosome analysis to have a normal karyotype, however, examination by fluorescent stains indicated that he had partial trisomy of chromosome No. 12 and deletion of a small portion of chromosomes No. 8.
TL;DR: The evidence suggests that pericentric inversion of chromosome 9 is a relatively common heteromorphism of the human karyotype and a more routine use of centromeric (C) banding in conjunction with Giemsa (G).
Abstract: CHROMOSOME banding systems allow new insight into the variations of the human chromosome complement. The cases discussed below show the value of carefully using a combination of banding techniques and we feel that a more routine use of centromeric (C) banding in conjunction with Giemsa (G) or fluorescence (Q) banding helps in establishing the true frequency of variation in the centromeric region. Our evidence suggests that pericentric inversion of chromosome 9 is a relatively common heteromorphism of the human karyotype.
TL;DR: Comparison with other patients reported as having C-group autosomal rings failed to reveal many common phenotypic characteristics, so this is the first report of a ring autosome in the C group to be identified.
Abstract: A clinical and cytogenetic report is made of a patient with microcephaly, peculiar facies, and retardation of physical and mental development, who possesses a karyotype containing a ring chromosome No. 6 identified by Q-staining with quinacrine mustard. This is the first report of a ring autosome in the C group to be identified. Comparison with other patients reported as having C-group autosomal rings failed to reveal many common phenotypic characteristics.
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TL;DR: Considering the above findings and other relevant data of some allied species, the differentiation between A. giliacus and A. speciosus might have occurred rather recently, when the former species might have been involved in rapid and divergent chromosomal evolution.
Abstract: Chromosome studies were made on 74 animals of the field mouse, Apodemus giliacus, a new form of the genus Apodemus described by Kobayashi and Hayata (1970). Extreme variations in number and morphology of chromosomes was observed. While the diploid numbers varied from 48 to 61, the number of acrocentric elements was consistently 48, except for one specimen which had 40 such elements. In contrast, the number and constitution of several biarmed elements and microchromosomes were highly variable in the complement, and, hence, responsible for the polymorphism. Karyotype analysis of meiotic chromosomes, on the basis of Giemsaand quinacrine-stained preparations, some familial studies and breeding experiments revealed that variable elements were supernumeraries of a hitherto undescribed type, whereas the 48 acrocentrics seemed to represent regular autosomes and sex elements. Most of the supernumeraries did not show pairing at metaphase I, but some did form bivalents. Usually, the supernumerary biarmed chromosomes were of regular size and fluoresced rather brightly over their entire length, suggesting that they were heterochromatic in nature. Considering the above findings and other relevant data of some allied species, the differentiation between A. giliacus and A. speciosus might have occurred rather recently, when the former species might have been involved in rapid and divergent chromosomal evolution.
TL;DR: Findings point to genetic differences which may result in variable responses to laboratory situations and the importance of identifying the source of squirrel monkeys used in biomedical research is apparent if results from different laboratories are to be repeated or compared.
Abstract: Three different karyotypes have been found so far among Saimiri originating from five different South American localities. All animals examined have the same diploid number (44) of chromosomes but the number of acrocentric and submetacentric chromosomes varies, presumably as a result of pericentric inversions. Saimiri originating from Iquitos, Peru, consistently have ten acrocentric chromosomes; animals originating from Leticia, Colombia, have 12 acrocentric chromosomes. Hybrids produced in our laboratory have the expected 11 acrocentrics and one unpaired submetacentric chromosome. Animals originating from Guyana have fourteen acrocentric chromosomes and the expected two fewer submetacentric chromosomes. Squirrel monkeys from Costa Rica, Panama, and Pucallpa, Peru, studied to this date conform to the Iquitos type with ten acrocentric chromosomes. These findings point to genetic differences which may result in variable responses to laboratory situations. The evolutionary factors involved in this rearrangement of chromosomes and possible influences on phenotypes are subjects of interest for future study. The importance of identifying the source of squirrel monkeys used in biomedical research is apparent if results from different laboratories are to be repeated or compared.