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Showing papers on "Karyotype published in 1982"


Journal ArticleDOI
TL;DR: It is suggested that characteristic chromosomal defects occur in certain lymphoma subtypes and that high-resolution chromosomal analysis promises to become an important tool in improving the basic understanding of lymphoid cancers.
Abstract: Using a new high-resolution technique for chromosomal analysis, we have successfully studied biopsy specimens of lymph nodes from 42 of 44 patients with non-Hodgkin's lymphoma and have categorized them using the new international histologic formulation and immunologic markers. Abnormalities of the clonal chromosomes were detected in all 42 patients. Three recurrent chromosomal aberrations were found to correlate with certain histologic types: a translocation between chromosomes 18 and 14 in 16 of 19 patients with follicular lymphomas (small cleaved cell, mixed cell, and large cell); a translocation between chromosomes 8 and 14 in 5 of 6 patients with small noncleaved-cell (non-Burkitt's) or large-cell immunoblastic lymphoma; and a trisomy 12 in 4 of 11 patients with small-cell lymphocytic lymphoma. Our findings suggest that characteristic chromosomal defects occur in certain lymphoma subtypes and that high-resolution chromosomal analysis promises to become an important tool in improving our basic understanding of lymphoid cancers.

626 citations


Journal ArticleDOI
TL;DR: Embryonal carcinoma cell lines with male karyotypes were isolated from three different tumor lines and the Y chromosome in each of two lines tested replicates late during the S phase of the cell cycle at the same time as Y chromosomes in male somatic cells.

419 citations



Journal ArticleDOI
TL;DR: The results suggest that translocations of the human c-mos or c-myc genes may be causally related to neoplastic transformation.
Abstract: We have used in situ chromosome hybridization techniques to map the human cellular counterparts (c-onc genes) of the transforming genes of two RNA tumor viruses on human meiotic pachytene and somatic metaphase chromosomes. We find that the human c-mos gene is located on chromosome 8 at a position corresponding to band 8q22 on the somatic map. The human c-myc gene is found on chromosome 8 at position 8q24. These regions on the long arm of chromosome 8 have been previously reported to be involved in specific translocations found in the M-2 subset of acute nonlymphoblastic leukemias. Burkitt lymphoma, and other forms of non-Hodgkin lymphoma, and a familial abnormality that predisposes to renal cell carcinoma. These results suggest that translocations of the human c-mos or c-myc genes may be causally related to neoplastic transformation.

286 citations


Journal ArticleDOI
23 Jul 1982-Science
TL;DR: A cultured cell line of the K-1735 melanoma was x-irradiated to induce chromosome breakage and rearrangements and then implanted into the footpads of syngenic C3H mice, indicating that the metastases were clonal and that they probably originated from different progenitor cells.
Abstract: A cultured cell line of the K-1735 melanoma was x-irradiated to induce chromosome breakage and rearrangements and then was implanted into the footpads of syngenic C3H mice. Spontaneous lung metastases were isolated from different animals, established in culture as individual lines, and then karyotyped. Within certain metastases, the same chromosomal abnormality (or abnormalities) (recombinant chromosomes) was found in all the cells examined. Most metastases differed from one another in that they exhibited characteristic combinations of chromosomal markers. These findings indicated that the metastases were clonal and that they probably originated from different progenitor cells.

263 citations


Journal Article
TL;DR: High-resolution chromosome analysis and multiple banding techniques were performed on blood samples from 40 patients with Prader-Willi syndrome to demonstrate that half of all patients with the clinical diagnosis of PWS have chromosome abnormalities involving chromosome 15 detectable by high-resolution methods.
Abstract: High-resolution chromosome analysis and multiple banding techniques were performed on blood samples from 40 patients with Prader-Willi syndrome (PWS) as a follow-up to our recent report in which we found interstitial deletions of 15q in four of five patients with this syndrome. Of the 40 new patients, 19 had interstitial del(15q), one had an apparently balanced 15;15 translocation, and one was mos46,XX/47,XX+idic(15) (pter leads to q11::q11 leads to pter). These data confirm our previous report and demonstrate that half of all patients with the clinical diagnosis of PWS have chromosome abnormalities involving chromosome 15 detectable by high-resolution methods. Although the majority of these involve a specific deletion of bands 15q11-q12, other alterations of chromosome 15 may be present.

227 citations


Journal ArticleDOI
TL;DR: The results show that human kappa light chain genes are located in the region of the break point observed in specific chromosomal translocations associated with Burkitt lymphoma.
Abstract: The genes for human immunoglobulin kappa light chains have been localized in normal lymphocyte and fibroblast chromosomes by in situ hybridization of probes from cloned DNA fragments of the kappa variable region locus. The localization was achieved by counting grains (after autoradiography) over chromosomes in a number of karyotypes. The variable region gene probes hybridized in a cluster on a region of the chromosome 2 short arm close to the centromere (2cen leads to p12). This location was confirmed in lymphocytes from a balanced translocation carrier 46XXt (2; 16) (q13; q22). Our results show that human kappa light chain genes are located in the region of the break point observed in specific chromosomal translocations associated with Burkitt lymphoma.

208 citations


Journal ArticleDOI
TL;DR: It is concluded that, in the Daudi Burkitt lymphoma, the break in chromosome 14 occurred within the chromosome segment containing V region genes, and it is possible that the expression of malignancy in Burkitt cancer is caused by immunoglobulin V region gene translocation resulting in activation of a gene on the long arm of human chromosome 8.
Abstract: We have produced cell hybrids between mouse myeloma cells, which do not produce immunoglobulin chains, and Burkitt lymphoma cells (Daudi), which express surface IgM. Daudi Cells carry a reciprocal chromosome translocation between chromosomes 8 and 14, described as (8;14)(q24;q32). The hybrids were studied for the expression of human immunoglobulin chains and human isozyme markers, for the presence of human chromosomes, and for the presence of the human genes for heavy chain variable regions (VH) and mu and gamma chain constant (C) regions. The results indicate that the expressed mu chain gene is on normal chromosome 14 in Daudi cells. We have also determined that the chromosome 14 involved in the translocation (14q+) carries the gene for C mu and C gamma 1-4 and probably several genes for the variable region (V). Certain hybrids had lost both the chromosomes 14 but had retained the abnormal chromosome 8 (8q-) that carries the terminal end of the long arm of chromosome 14. These hybrids were studied for the presence of human VH, C mu,, and C gamma DNA sequences, and the results indicated that the hybrid cells with the 8q- chromosome contained VH genes that not C genes. Therefore, we conclude that, in the Daudi Burkitt lymphoma, the break in chromosome 14 occurred within the chromosome segment containing V region genes. As a result of the translocation some of these VH genes became associated with chromosome 8. It is possible that the expression of malignancy in Burkitt lymphoma is caused by immunoglobulin V region gene translocation resulting in activation of a gene on the long arm of human chromosome 8.

174 citations


Book ChapterDOI
TL;DR: The relatively consistent chromosome changes, especially specific translocations that are closely associated with particular neoplasms, provide convincing evidence for the fundamental role of these changes in the transformation of a normal cell to a malignant cell.
Abstract: Publisher Summary The relatively consistent chromosome changes, especially specific translocations that are closely associated with particular neoplasms, provide convincing evidence for the fundamental role of these changes in the transformation of a normal cell to a malignant cell. In some tumors, these changes are too small to be detected, and the cells appear to have a normal karyotype. However, new chromosome banding techniques have helped in the understanding of the specificity of some of the abnormalities. These techniques allow the identification of each human chromosome and of parts of chromosomes as well. When one considers the number of nonrandom changes that are seen in a cancer such as acute nonlymphocytic leukemia (ANLL), it is clear that not just one gene but rather a class of genes is involved. Moreover, knowledge of the human gene map has developed concurrently with the understanding of the consistent chromosome changes in neoplasia. It is now possible to correlate the chromosomes that are affected with the genes that they carry.

169 citations


Journal ArticleDOI
01 Oct 1982-Blood
TL;DR: It is concluded that aneuploidy and S-phase cell percentage are correlated with the state of leukemia cell differentiation and may be linked to the process of malignant transformation.

159 citations


Journal ArticleDOI
TL;DR: Deletions or rearrangements of chromosome 1p were found in preparations from four of six neuroblastomas from individuals with normal constitutional karyotypes and in three of four permanent neuroblastoma cell lines, suggesting that the distal portion of 1p contains at least one gene involved in the development of Neuroblastoma.

Journal ArticleDOI
TL;DR: It is proposed that only one chromosome is susceptible to translocation in meiosis in both males and females and that all affected men will be sterile, as will be 50% of women.
Abstract: To define the principal characteristics of X-autosome translocations, the authors present a study of 105 cases, five of which are personal observations. The autosomal pairs 15, 21, and 22 are affected by t(X-Aut) more often than would be expected. The distribution of breakpoints on the X chromosome does not differ significantly from the expected distribution. The analysis of different patterns of inactivation seems to confirm that the inactivation could occur at random, but would be followed by a cellular selection favoring the better genetic balance. An estimate of the incidence of t(X-Aut) is proposed, based upon the conclusions that only one chromosome is susceptible to translocation in meiosis in both males and females and that all affected men will be sterile, as will be 50% of women.

Journal ArticleDOI
03 Jun 1982-Nature
TL;DR: From studies of two families having abnormalities involving the long arm of chromosome 14, the locus for Gm has been localized to the terminal portion of 14q at band q32.3 and PI to a more proximal position, between q24.2 andq32.1.
Abstract: Studies of somatic cell hybrids have assigned the gene cluster for human immunoglobulin heavy chains μ, γ and α to chromosome 14 (ref. 1). The locus for Gm (GM), a genetic marker on the γ heavy chain, has been shown to be linked to PI, the locus for α1-antitrypsin/α1-protease inhibitor (α1AT), a major protease inhibitor in human serum2,3. This assignment has now been confirmed by studies of somatic cell hybrids which have assigned α1AT also to chromosome 14 (refs 4,23). From studies of two families having abnormalities involving the long arm of chromosome 14, we have localized GM to the terminal portion of 14q at band q32.3 and PI to a more proximal position, between q24.3 and q32.1. The immunoglobulin genes are within a chromosome region noted for its high frequency of breaks associated with chromosome rearrangement, which occur both spontaneously in cultured lymphocytes and in certain malignancies.

Journal ArticleDOI
TL;DR: Investigating the sources and magnitudes of variability in the mean fluorescence intensities of each chromosome group resolved in bivariate flow karyotypes and studying the impact of this variability on chromosome classification found that person- to-person variability was significantly greater than run-to-run variability.
Abstract: Dual beam flow cytometry of chromosomes stained with Hoechst 33258 and chromomycin A3 has been proposed as a method for quantitative classification of human chromosomes (bivariate flow karyotyping). In this paper we investigate the sources and magnitudes of variability in the mean fluorescence intensities of each chromosome group resolved in bivariate flow karyotypes and study the impact of this variability on chromosome classification. Replicate bivariate flow karyotypes of chromosomes isolated from lymphocytes from 10 individuals demonstrated that person-to-person variability was significantly greater than run-to-run variability. The total variability was sufficiently small that it did not interfere with classification of normal chromosome types except chromosomes 9 through 12 and chromosomes 14 and 15. Furthermore, the variability was generally smaller than 1/600th of the mitotic genome, so that one-band rearrangements should be detectable in bivariate flow karyotypes.

Journal ArticleDOI
TL;DR: Evidence is presented that structural abnormalities involving the particular chromosome segment identified in the constitutional cases can also occur in the tumors of individuals with normal constitutional karyotypes, suggesting that changes in a gene or genes at a common site (13q14) play a role in tumorigenesis in all forms of retinoblastoma.

Journal ArticleDOI
TL;DR: HBL-100 cells exhibited several characteristics of transformation including the ability to form colonies in soft agar, an aneuploid chromosome complement, and continuous growth.
Abstract: A continuous cell line (HBL-100) was obtained from primary cultures of cells derived from an early lactation sample of human milk. There was no evidence of a breast lesion in the milk donor. Karyotype analysis showed that all metaphases contained human chromosomes including a large acrocentric marker chromosome. Both desmosomes and cytoplasmic tonofibrils were observed during early passage. HBL-100 cells exhibited several characteristics of transformation including the ability to form colonies in soft agar, an aneuploid chromosome complement, and continuous growth.

Journal ArticleDOI
TL;DR: The presence of additional chromosomal abnormalities together with a specific translocation allows a distinction to be made between specific and secondary chromosome anomalies, and the implications of the two types of aberrations for research into the molecular mechanisms of malignancy are discussed.

Journal ArticleDOI
TL;DR: It is found that the diploid chromosomes 4 are indeed involved in the suppression of malignancy in all the tumours that are examined, which include a carcinoma, a melanomas, a sarcoma and a lymphoma, and in all crosses between these malignant tumour cells and diploids fibroblasts, there is selective pressure in vivo against the chromosomes 4 derived from the dibloid cell and in favour of the chromosome 4derived from the malignant cell.
Abstract: Previous experiments with crosses between malignant and diploid mouse cells had shown that the reappearance of malignancy in hybrids in which it was initially suppressed was associated in some cases with the elimination of the chromosomes 4 derived from the diploid parent cell. In others, however, this did not appear to be so. In the present study, we have re-examined the role of the diploid chromosomes 4 in the suppression of malignancy using natural polymorphisms of the centromeric heterochromatin to identify the parental origin of the chromosomes 4 in the hybrid cells. We now find that the diploid chromosomes 4 are indeed involved in the suppression of malignancy in all the tumours that we have examined, which include a carcinoma, a melanoma, a sarcoma and a lymphoma. In all crosses between these malignant tumour cells and diploid fibroblasts, there is selective pressure in vivo against the chromosomes 4 derived from the diploid cell and in favour of the chromosomes 4 derived from the malignant cell. This indicates that the chromosomes 4 in all these tumours are in some way functionally different from the chromosomes 4 of the diploid fibroblast. Reappearance of malignancy in hybrids in which it was initially suppressed may result from a reduction in the number of diploid chromosomes 4, an increase in the number of malignant chromosomes 4, or both. The gene on the diploid chromosome 4 responsible for the suppression of malignancy acts in a dose-dependent manner.

Journal Article
TL;DR: The frequency and type of sperm chromosome abnormalities is compared with those seen in spontaneous abortions and in vitro fertilization of zona-free golden hamster eggs.
Abstract: Chromosomal analysis of 240 spermatozoa from 18 normal men was performed using in vitro fertilization of zona-free golden hamster eggs. The frequency of chromosome abnormalities in this population was 9.2% (22/240). Of the abnormal complements, 18 were aneuploid (13 hyperploid and five hypoploid) and four had a chromosome break. The sex ratio of Y-bearing to X-bearing sperm was .68. The frequency and type of sperm chromosome abnormalities is compared with those seen in spontaneous abortions.

Journal ArticleDOI
TL;DR: Syrian hamster cells resistant to N-(phosphonacetyl)-L-aspartate (PALA), a specific inhibitor of the aspartate transcarbamylase activity of the multifunctional protein CAD, overproduce this protein as a result of amplification of the CAD gene.
Abstract: Syrian hamster cells resistant to N-(phosphonacetyl)-L-aspartate (PALA), a specific inhibitor of the aspartate transcarbamylase activity of the multifunctional protein CAD, overproduce this protein as a result of amplification of the CAD gene. The authors have used a sensitive in situ hybridization technique to localize CAD genes in spreads of metaphase chromosomes from several independent PALA-resistant lines and from wild-type PALA-sensitive cells. The amplified genes were always found within chromosomes, usually in an expanded region of the short arm of chromosome B9. In wild-type cells, the CAD gene was also on the short arm of chromosome B9. In one mutant line, 90 to 100 CAD genes were found within an expanded B9 chromosome and 10 to 15 more were near the distal end of one arm of several different chromosomes. Another line contained most of the genes in a telomeric chromosome or large chromosome fragment. The amplified genes were in chromosomal regions that were stained in a banded pattern by trypsin-Giemsa. A few double minute chromosomes were observed in a very small fraction of the total spreads examined. The in situ hybridizations were performed in the presence of 10% dextran sulfate 500, which increases the signal by as much as 100-fold.more » Using recombinant DNA plasmids nick-translated with -/sup 125/I)dCTP to high specific radioactivity, 10 CAD genes in a single chromosomal region were revealed after 1 week of autoradiographic exposure, and the position of the unique gene could be seen after 1 month.« less

Journal ArticleDOI
01 Jan 1982-Blood
TL;DR: A cytologic and cytogenetic study of 10 cases of acute myeloblastic leukemia with maturation and t(8,21) translocation is reported in this article.


Journal ArticleDOI
TL;DR: Analysis of a group of human/rodent somatic cell hybrids with nucleic acid probes prepared from cloned human variable region, junctional, and constant region heavy chain immunoglobulin genes indicates that all of these IgH genes are localized on the subtelomeric band of chromosome 14.
Abstract: Analysis of a group of human/rodent somatic cell hybrids with nucleic acid probes prepared from cloned human variable region (VH), junctional (JH), and constant region (C epsilon) heavy chain immunoglobulin genes indicates that all of these IgH genes are localized on the subtelomeric (q32) band of chromosome 14. Somatic cell hybrids were isolated in selective medium after fusing human fibroblasts with hprt- Chinese hamster cells. The human parental cells contained two translocation chromosomes representing a reciprocal translocation between chromosomes X and 14. Only those hybrid cell lines retaining a complete human autosome 14 or the X/14 translocation chromosome (i.e. containing band 14q32) retained the human IgH genes. Retention of these genes did not correlate with the presence of the other translocation chromosome, 14/X. These results indicate that all human IgH genes (VH, JH, and CH) map to the same chromosomal band (14q32) which is commonly involved in reciprocal translocations with human chromosome 8 (8q24) in B-cell neoplasms.

Journal ArticleDOI
TL;DR: It is suggested that loss of 17p is a highly nonrandom event related to blastic crisis in CML and the terminal phase in other myeloid leukemias.

Journal ArticleDOI
TL;DR: These studies represent the first localization of a peptide and steroid hormone-responsive gene family to a single mouse chromosome, the murine caseins.
Abstract: A series of mouse-hamster somatic cell hybrids containing a variable number of mouse chromosomes and a constant set of hamster chromosomes have been used to determine the chromosomal location of a family of hormone-inducible genes, the murine caseins. Recombinant mouse cDNA clones encoding the alpha-, beta-, and gamma-caseins were constructed and used in DNA restriction mapping experiments. All three casein cDNAs hybridized to the same set of somatic cell hybrid DNAs isolated from cells containing mouse chromosome 5, while negative hybridization was observed to ten other hybrid DNAs isolated from cells lacking chromosome 5. A fourth cDNA clone, designated pCM delta 40, which hybridized to an abundant 790 nucleotide poly(A)RNA isolated from 6-d lactating mouse mammary tissue, was also mapped to chromosome 5. The chromosomal assignment of the casein gene family was confirmed using a mouse albumin clone. The albumin gene had been previously localized to mouse chromosome 5 by both breeding studies and analogous molecular hybridization experiments. An additional control experiment demonstrated that another hormone-inducible gene, specifying a 620 nucleotide abundant mammary gland mRNA, hybridized to DNA isolated from a different somatic cell hybrid line. These studies represent the first localization of a peptide and steroid hormone-responsive gene family to a single mouse chromosome.

Journal ArticleDOI
TL;DR: A centromeric heteromorphism in the chromosomes 11 is discovered which, together with the types of chromosome rearrangements thus far catalogued for TK+ / − → TK− / − mutagenesis, allows us to propose a cytogenetic distinction between the TK-competent (TK+) and Tk-deficient (Tk−) chromosome.

Journal ArticleDOI
TL;DR: Human metaphase chromosomes, prepared for light microscopy were examined by scanning electron microscopy using an osmium impregnation technique, which eliminated the need for sputter-coating and allowed high-resolution visualization of uncoated specimens.
Abstract: Human metaphase chromosomes, prepared for light microscopy were examined by scanning electron microscopy. Use of an osmium impregnation technique eliminated the need for sputter-coating and allowed high-resolution visualization of uncoated specimens. Chromosomes were of three-dimensional cylindrical profile, with well-defined chromatids and centromeres. Prior to Giemsa-banding a smooth surface morphology was observed. Relaxation of chromosome integrity by Giemsa-banding pretreatment allowed resolution of several orders of chromosome structure not previously demonstrated by scanning electron microscopy. The observed organization of the chromatin fibres allowed parallels to be drawn with the radial loop model of chromosome construction as described by Marsden and Laemmli.

Journal ArticleDOI
TL;DR: The study of banded chromosomes of nine sporadic unilateral retinoblastomas revealed near diploid karyotypes with multiple numerical and (or) structural abnormalities in all tumors.
Abstract: The study of banded chromosomes of nine sporadic unilateral retinoblastomas revealed near diploid karyotypes with multiple numerical and (or) structural abnormalities in all tumors. An identical marker i(6p) was noted in cells of the modal class of six retinoblastomas. Extra copies of the short arm of chromosome 6 were observed in seven tumors: +i(6p) in 6 and +6q- in one. Less regular but repeated findings were a loss of one sex chromosome, and markers 1p+ and 17q+. The structure of these markers was not identical in different tumors. Abnormalities of chromosome 13 were not observed in tumor cells, nor in blood lymphocytes stimulated by PHA.

Journal ArticleDOI
TL;DR: High resolution chromosome analysis of peripheral blood lymphocytes of the two patients revealed apparently normal karyotypes, suggesting that changes in the short arm of chromosome No. 11 are important in the development of Wilms' tumor in normal individuals.