Showing papers on "Karyotype published in 1974"
TL;DR: So far, the only specific chromosome abnormality in haematological disorders is the Ph1-chromosome, but a constant cytogenetic abnormality associated with a defined clinical syndrome has not been reported.
Abstract: So far, the only specific chromosome abnormality in haematological disorders is the Ph1-chromosome. Chromosome abnormalities have been described in so-called idiopathic side-roblastic or refractory anaemias1 but a constant cytogenetic abnormality associated with a defined clinical syndrome has not been reported.
422 citations
TL;DR: It was concluded that the probability of a chromosome being involved in the formation of a common nucleolus is not a simple function of its rDNA content and other possible factors are considered.
Abstract: 3H-rRNA obtained from Xenopus laevis tissue cultured cells, or a 3H-cRNA made from Xenopus ribosomal DNA, was used for heterologous in situ hybridisation with human lymphocyte metaphase chromosomes. Prior to hybridisation, chromosome spreads were stained with Quinacrine and selected cells showing good Q-banding photographed; the same cells were then rephotographed after autoradiography and pairs of photographs for each cell were used to make dual karyotypes. The chromosomes within each karyotype were divided into equal sized segments (approx. 0.7 μ), with a fixed number of segments for each chromosome type. The distribution of silver grains between segments showed that the 3H-RNAs hybridised specifically to the nucleolar organising regions of the D and G group chromosomes with no other sites of localised labelling in the complement. Control experiments showed no localisation, with insignificant labelling, when metaphase spreads were incubated in a mixture containing Xenopus3H-rRNA and competing cold human (HeLa) rRNA. Filter hybridisation experiments on isolated human DNA showed that the Xenopus derived 3H-RNAs hybridised to a fraction of human DNA which was on the heavy side of the main DNA peak and that these RNAs were competed out in the presence of excess cold human rRNA, confirming the specificity of the heterologous hybridisation. In situ hybridisation experiments were also carried out on cells from individuals with one chromosome pair showing heteromorphism for either a very long stalk (nucleolar constriction) subtending a satellite, or a large satellite. It was shown that the chromosome with the large stalk hybridised four times as much 3H-rRNA as its homologue, whereas differences in the sizes of the subtended satellites did not materially affect hybridisation levels indicating that rDNA is located in the stalks and not the satellites. The amount of 3H-rRNA hybridised differs between chromosomes and individuals; these differences are heritable and rDNA can be detected by in situ hybridisation in all three chromosomes number 21 in cells from Down's patients and in translocated chromosomes conta.ining a nucleolar constriction. Different D and G group chromosomes which hybridised equal amounts of 3H-rRNA participated in rosette associations at metaphase in a random fashion in some individuals and in a non-random fashion in others. In all individuals studied chromosomes with large amounts of rDNA were not found to be preferentially involved in association. It was therefore concluded that the probability of a chromosome being involved in the formation of a common nucleolus is not a simple function of its rDNA content and other possible factors are considered.
273 citations
TL;DR: Chromosome banding revealed marked chromosomes characteristic of HeLa cells in cultures designated HEK, HEK/HRV, H BT-3, HBT-39B, MA160, and a strain of SA-4TxS-Husa1.
Abstract: Chromosome banding revealed marked chromosomes characteristic of HeLa cells in cultures designated HEK, HEK/HRV, HBT-3, HBT-39B, MA160, and a strain of SA-4TxS-Husa1. Ohter HeLa cell characteristics found were glucose-6-phosphate dehydrogense type A mobility and lack the Y chromosome. Conventional chromosome analysis and immunological and enzymatic technique serve to monitor species specificity and racial origin of the donor. Chromosome banding, however, can monitor intralinear karyotype peculiarity and its evolution during long-term cultivation.
208 citations
TL;DR: A major role had been played by centric fission as well as fusion, translocation, and pericentric inversion in birds to elucidate mechanisms involved in certain structural changes of macrochromosomes observed in birds.
Abstract: Karyotypes were compared in 48 species, including 6 subspecies, of birds from 12 orders: Casuariiformes, Rheiformes, Sphenisciformes, Pelecaniformes, Ciconiiformes, Anseriformes, Phoenicopteriformes, Gruiformes, Galliformes, Columbiformes, Falconiformes and Strigiformes. — With the exception of the family Accipitridae, all the species studied are characterized by typical bird karyotypes with several pairs of macrochromosomes and a number of microchromosomes, though the boundary between the two is not necessarily sharp. The comparative study of complements revealed that a karyotype with 3 morphologically distinct pairs of chromosomes is frequently encountered in all orders except the Strigiformes. Those 3 pairs, submetacentric nos. 1 and 2, and a subtelocentric or telocentric no. 3, are not only morphologically alike but also have conspicuous homology revealed by the G-banding patterns. Furthermore, G-banding analysis provided evidence for the derivation of the owl karyotype from a typical bird karyotype.—The above cytogenetic features led to the assumption that the 3 pairs of marker chromosomes had been incorporated into an ancestral bird karyotype. It seems probable that those chromosomes have been transmitted without much structural changes from a common ancestor of birds and turtles, since the presence of the same marker chromosomes in the fresh water turtle Geoclemys reevesii is ascertained by G-banding patterns. — A profile of a primitive bird karyotype emerged through the present findings. Hence, it has become possible to elucidate mechanisms involved in certain structural changes of macrochromosomes observed in birds. It was concluded that a major role had been played by centric fission as well as fusion, translocation, and pericentric inversion.
200 citations
TL;DR: Comparisons of somatic cells to produce interspecific cell hybrids provide a form of segregation analysis which can substitute for more traditional genetic methods, particularly in studies on man where classical genetic methodology is difficult to apply.
Abstract: VIRUS-MEDIATED fusion of somatic cells to produce interspecific cell hybrids has proved to be a most valuable technique for biological research1. Such crosses often undergo an initial fairly random loss of many chromosomes of one parent before karyotypic stability is reached. This property can be used to generate clones of cells each containing a small selection of human chromosomes in a background genotype of some other species. Comparisons of such cell lines provide a form of segregation analysis which can substitute for more traditional genetic methods, particularly in studies on man where classical genetic methodology is difficult to apply.
154 citations
TL;DR: The chromosomes of rye have been individually identified by their distinctive heterochromatin pattern with Giemsa staining and classified on the basis of their homoeology with wheat chromosomes.
Abstract: The chromosomes of rye have been individually identified by their distinctive heterochromatin pattern with Giemsa staining and classified on the basis of their homoeology with wheat chromosomes. The constitutive heterochromatin detected by C-banding has been shown to be identical with the classical heterochromatin as seen in the pachytene of meiosis in rye.
137 citations
Journal Article•
125 citations
TL;DR: It is postulated that the hybridization of mouse nondividing cells with human cancer cells could permit the identification of the human "oncogenic" chromosome(s) present inhuman cancer cells, since such chromosome should be retained by the totality of the mouse-human hybrid cells.
Abstract: Fusion of mouse peritoneal macrophages with SV40-transformed human cells, deficient in hypoxanthine guanine phosphoribosyltransferase, resulted in the formation of transformed somatic cell hybrids which contained, without exception, the human chromosome 7 carrying the SV40 genome. It is postulated that the hybridization of mouse nondividing cells with human cancer cells could permit the identification of the human "oncogenic" chromosome(s) present in human cancer cells, since such chromosome(s) should be retained by the totality of the mouse-human hybrid cells.
116 citations
Journal Article•
111 citations
TL;DR: These modified Giemsa procedures all produce densely stained regions of one or both chromosome arms close to the centromere, which stain the secondary constriction of chromosome 1, 9 and 16, as well as the distal part of the Y chromosome.
Abstract: AFTER the introduction of the quinacrine fluorescence method1, several Giemsa staining techniques have been developed for karyotype analysis of human chromosomes. Pardue and Gall2, originally noticed a denser staining of centromeric regions of chromosomes after in situ hybridisation of mouse chromosome preparations with mouse satellite DNA followed by Giemsa staining. This initial approach was modified by Arrighi and Hsu3 who omitted DNA hybridisation. Later, Sumner et al.4 left out treatment with RNase and HC1 as well. Finally, McKenzie and Lubs5 treated chromosomes with HCl and 2×SSC only. These modified Giemsa procedures all produce densely stained regions of one or both chromosome arms close to the centromere. These C-band procedures also stain the secondary constriction of chromosome 1, 9 and 16, as well as the distal part of the Y chromosome. Satellites that stain brightly by Q-band techniques are also revealed by these methods.
99 citations
TL;DR: The drug and radiation resistance is accompanied by, and perhaps mediated through, a reduced amount of induced chromosome damage but is not quantitatively related to the capacity for DNA repair replication.
Abstract: A pair of cultured rat lymphosarcoma cell lines (Yoshida) with a pronounced differential sensitivity to killing with sulphur mustard (SM), but with the same sensitivity to X-rays, was examined for chromosome damage and DNA repair replication after treatment with these agents. A pair of mouse lymphoma cell lines (L5178Y) with a differential sensitivity to X-rays was similarly investigated. SM-resistant Yoshida cells suffered much less chromosome damage than sensitive cells in spite of equal alkylation of DNA, RNA and protein in sensitive and resistant cells. The pair of Yoshida cell lines sustained the same amount of chromosome damage after X-irradiation. Much less chromosome damage was observed in the radiation-resistant lymphoma cell line than in the sensitive line after X-irradiation. No differences was found between the pairs of cell lines in their capacities for repair replication after SM or X-ray treatment. Thus, the drug and radiation resistance is accompanied by, and perhaps mediated through, a reduced amount of induced chromosome damage but is not quantitatively related to the capacity for DNA repair replication. Apart from small differences in modal chromosome numbers there are no obvious karyotype differences between the sulphur mustard-sensitive and -resistant Yoshida cells or between the radiation-sensitive and -resistant lymphoma cells.
TL;DR: Portions of constitutive heterochromatin of the Chinese hamster Cricetulus griseus, do not appear to contain a disproportionately high amount of repeated DNA sequences.
Abstract: Portions of constitutive heterochromatin of the Chinese hamster Cricetulus griseus, do not appear to contain a disproportionately high amount of repeated DNA sequences. These specific regions are the long arm of the X chromosome, the entire Y chromosome, and the centromeric region of chromosome 10. Other heterochromatic areas of the Chinese hamster chromosomes showed localization of repetitious DNA.
TL;DR: A family of three generations has been described with an insertional type of chromosome rearrangement involving chromosomes 11 and 18 detected by G-banding using a trypsin digestion method, indicating that the PepA locus which had been previously assigned to chromosome 18, does not lie in the segment q11→q21.
Abstract: A family of three generations has been described with an insertional type of chromosome rearrangement involving chromosomes 11 and 18[46,XX or XY, ins(11;18)(p15;q11q21)] detected by G-banding using a trypsin digestion method. Four members of this family with clinical features of 18q− have inherited the der(18) from their father and are thus deficient for (18)(q11q21). Three other family members have inherited the der(11) and thus have a duplication of the same segment [(18)(q11q21)]. Genetic marker studies on this family, show no significant segregation of any of the markers studied with either the der(11) or der(18). Eight family members had the PepA8PepA1 genotype and four of these were carrying the der(18), indicating that the PepA locus which had been previously assigned to chromosome 18, does not lie in the segment q11→q21.
TL;DR: Electrophoretic studies indicate that this is adequate to completely remove the histones from fixed and dried chromatin thus indicating that histones are not involved in C- or G-banding.
TL;DR: The G-band patterns of mitotic metaphase chromosomes No. 1 and 2 of the Chinese hamster cells correlate closely to the chromomere patterns of the meiotic pachytene bivalents, interpreted to indicate that the regions of centromeric and intercalary heterochromatin, which are more tightly condensed or more tightly packaged during interphase, tend to remain so during meiosis and mitosis.
Abstract: The G-band patterns of mitotic metaphase chromosomes No. 1 and 2 of the Chinese hamster cells correlate closely to the chromomere patterns of the meiotic paehytene bivalents. This is interpreted to indicate that the regions of centromeric and intercalary heterochromatin, which are more tightly condensed or more tightly packaged during interphase, tend to remain so during meiosis and mitosis.
TL;DR: A comparison of the Giemsa-banding patterns of the X chromosomes in various mammalian species including man indicates that two major bands (A and B), which are resistant to trypsin and urea-treatments, are always present irrespective of the gross morphology of theX chromosomes.
Abstract: A comparison of the Giemsa-banding patterns of the X chromosomes in various mammalian species including man indicates that two major bands (A and B), which are resistant to trypsin and urea-treatments, are always present irrespective of the gross morphology of the X chromosomes. This is true in all mammalian species with the "original or standard type" X chromosomes (5–6% of the haploid genome) thus far analyzed. In the unusually large-sized X chromosomes the extra chromosomal material may be due either to the addition of genetically inert constitutive heterochromatin or to an X-autosome translocation. In these X chromosomes two major bands are present in the actual X-chromosome segment. Our data on C and G band patterns also support Ohno's hypothesis that the mammalian X chromosome is extremely conservative in its genetic content, in spite of its cytogenetic variability.
TL;DR: By karyotype analysis of a series of colonies arising from a specimen of amniotic fluid, the interpretation of chromosomal mosaicism, when present, should be rendered less ambiguous.
Abstract: Extract: The occurrence of chromosomal mosaicism in 48 amniotic fluid cell cultures was studied. Chromosome preparations were made by in situ processing and the karyotype was established from the analysis of a series of discrete colonies, thereby reflecting more closely the chromosomal status of the original fluid sample. In 50% of cultures there were one or more colonies in which the chromosomes were entirely tetraploid, the frequency ranging from 2% to 14%. No chromosomally abnormal infants were born in these cases and tetraploidy should not be considered a reason for termination of pregnancy. Four amniotic fluid samples showed one, and in one instance two, chromosomally abnormal colonies in cultures with otherwise normal chromosomes. Three of these involved trisomy (47,XY, +C; 47,XX, +C; 47,XY, +2) and two involved translocation (46,XY,t(Bq + ;Cq-); 46,XX,t(2p-;Eq+)). In no instance did the minor aberrant cell type observed in the amniotic fluid appear in the neonate. The frequency with which chromosomally aberrant cell types appear in normal amniotic fluid cell cultures makes prenatal diagnosis of a true mosaic extremely hazardous. Speculation: Cultured amniotic fluid cells proliferate as discrete colonies from which chromosome preparations can be obtained using in situ processing. By karyotype analysis of a series of colonies arising from a specimen of amniotic fluid, the interpretation of chromosomal mosaicism, when present, should be rendered less ambiguous.
TL;DR: G-banding of chromosomes appears to be a consequence of a varying concentration of protein disulphides and sulphydryls along the chromosomes.
TL;DR: A Giemsa C-banding technique applied to the mosquito, Aedes aegypti, has revealed a distinctive banding pattern which is described as a reliable means of distinguishing between the morphologically similar X and Y chromosomes during all stages of mitosis and meiosis.
Abstract: A Giemsa C-banding technique applied to the mosquito, Aedes aegypti, has revealed a distinctive banding pattern which is described as a reliable means of distinguishing between the morphologically similar X and Y chromosomes during all stages of mitosis and meiosis. The essential difference is that the Y chromosome, unlike the X and the autosomes, is not C-banded in the centromere region. An intercalary band is also present in one arm of all X chromosomes and some Y chromosomes. The distribution of these cytological markers throughout meiosis indicates that the sex locus occurs somewhere within a pericentric region, the minimum extent of which includes both the intercalary band and the centromere.
TL;DR: Correlation of the serological and cytogenetic findings, combined with previous data, indicates that the Rhesus blood group locus is on the distal portion of the short arm of chromosome No. 1.
Abstract: Rh-negative erythrocytes were found in the blood of an Rh-positive man suffering from myelofibrosis. Nucleated hemopoietic precursors were also circulating in his blood, and these cells had an abnormal chromosome complement from which identifiable chromosome segments had been deleted. Correlation of the serological and cytogenetic findings, combined with previous data, indicates that the Rhesus blood group locus is on the distal portion of the short arm of chromosome No. 1.
TL;DR: Ultraviolet irradiation of methanol: acetic acid-fixed human and mouse metaphase chromosomes rendered them capable of binding antibodies specific for purine or pyrimidine bases indicated that UV irradiation generated single-stranded regions in chromosomal DNA.
TL;DR: The 9qh+ most probably represents a duplication of the heterochromatic secondary constriction in chromosome No. 9, which indicates that such duplications might give an increased risk of chromosome abnormalities of different kind in the progeny.
Abstract: The frequency of 9qh+ was 0.1% in 5 population studies comprising 8712 persons. We found 3.5% with 9qh+ among the parents of the 43 children with major chromosome abnormalities found among 5049 consecutive newborn children in 1 of the 5 studies mentioned [P (Fisher)=0.0001].
TL;DR: Metaphase chromosome preparations of three male and one female Gorilla gorilla were stained to demonstrate quinacrine, Giemsa, centromeric heterochromatin, and, in one case, reverse.
Abstract: Metaphase chromosome preparations of three male and one female Gorilla gorilla were stained to demonstrate quinacrine, Giemsa, centromeric heterochromatin, and, in one case, reverse
TL;DR: The findings in the affected patients fit the general description of the trisomy-8 syndrome, and suggests that the distal end of the long arm of chromosome 8 may be responsible for the bulk of the Trisomie-8 phenotype.
Abstract: A familial partial trisomy for the distal end of the long arm of chromosome 8 and the short arm and centromeric region of chromosome 22 is reported. Even though the segment of chromosome 8 involved is small, the findings in the affected patients fit the general description of the trisomy-8 syndrome. This suggests that the distal end of the long arm of chromosome 8 may be responsible for the bulk of the trisomy-8 phenotype.
TL;DR: A boy with unusual facial appearance and mental retardation was found to have duplication for the distal half of the long arm of chromosome No. 15 and possibly deficiency for thedistal end of theLong arm of No. 21.
Abstract: A boy with unusual facial appearance and mental retardation was found to have duplication for the distal half of the long arm of chromosome No. 15 and possibly deficiency for the distal end of the long arm of No. 21. The chromosome abnormality was inherited from his mother, who had a translocation involving chromosomes Nos. 15 and 21. Giemsa-banding localized the break point in chromosome No. 15 just distal to the intense band at the midportion of the long arm. The break point in chromosome No. 21 appeared to be at the distal end of the long arm. The difficulty encountered in cytogenetic analysis of the propositus with conventional staining, the importance of chromosome analysis of the parents, and the application of differential staining techniques are also presented.
TL;DR: Improved cytological procedures were followed to establish karyotypes and to detect C-segments which resulted in a more precise identification of given chromosome pairs, and end-to-end pachytene associations reacted intensely to the C-procedure.
Abstract: A comparative study of C-banded mitotic and meiotic chromosomes of Gryllus argentinus (Gryllidae) is reported Improved cytological procedures were followed to establish karyotypes and to detect C-segments Twenty-eight autosomes plus a sexual system XX, XO were found Terminal C-heterochromatin in both arms and paracentric segments were detected in most of the chromosomes of the complement Microdensitometric tracings confirmed the distribution of C-banded segments Manifold connections through condensed terminal chromomeres were observed at pachytene occurring between two or more bivalents during meiosis These heterologous associations involved the whole karyotype End-to-end pachytene associations reacted intensely to the C-procedure C-segments detected at diakinesis allowed the measurement of the centromere indices of bivalents which resulted in a more precise identification of given chromosome pairs The relationship of the presence of terminal heterochromatin in mitotic chromosomes, the end-to-end associations through C-segments, the attachment of pachytene filaments to the nuclear membrane and their molecular implications is discussed
TL;DR: The rDNA was present in the satellite regions of chimpanzee chromosomes 14, 15, 17, 22 and 23 and four of these are homologous to human chromosomes carrying rDNA.
Abstract: In situ hybridization was used to identify the sites of rDNA in the chromosome complement of the chimpanzee (Pan troglodytes). The rDNA was present in the satellite regions of chimpanzee chromosomes 14, 15, 17, 22 and 23. Four of these (14, 15, 22, 23) are homologous to human chromosomes carrying rDNA: 13, 14, 21 and 22.
TL;DR: Attempts were made in the laboratory to develop a reliable and simple method for observing chromosome bands at the electron microscope level, using trypsin as the banding agent5.
Abstract: CHROMOSOME banding methods have been widely used to identify normal and rearranged chromosomes1–11 and to probe the structural and biochemical organisation of chromosomes11–13. The methods most commonly used include Q1,2, G3–6, C7 and R banding8, each producing characteristic bands on metaphase chromosomes as observed by light microscopy. Attempts to observe banding at an ultrastructural level have not been particularly successful12,14,15, but since such studies could provide more detailed maps of chromosomes and help to clarify the structural nature of the bands, further attempts were made in my laboratory to develop a reliable and simple method for observing chromosome bands at the electron microscope level, using trypsin as the banding agent5.