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PubMed1987

Analysis of human chromosome 11 by somatic cell genetics: reexamination of derivatives of human-hamster cell line J1.

Through the fusion of a CHO cell population to a human cell population, a hybrid cell line which has lost all human chromosomes except chromosome 11 was derived. This cell line, J1, does not appear to segregate human chromosome 11 during growth. A series of deletion segregants were isolated from J1 which had lost a portion of either the long, short, or both arms of chromosome 11. This panel of deletion segregants was used for mapping a number of genetic markers on the short arm of chromosome 11. Karyotypic analysis led to the interpretation that derivatives of J1 selected for the loss of cell surface antigens encoded by genes on the short arm of the chromosome had simple terminal deletions of this chromosome arm. More recently, we have applied recombinant DNA and in situ hybridization techniques to the analysis of the structure of chromosome 11. In the course of this analysis, we have obtained data that indicate that all J1 deletion segregants retain a small chromosomal segment containing the structural genes for insulin and HRAS1. Analysis of in situ hybridization data indicates that in cell lines in which a chromosome 11 fragment cannot be identified by karyotype analysis, human DNA has been translocated to a Chinese Hamster chromosome. These results suggest that the original interpretation of the karyotypes of deletion segregants derived from J1 as simple terminal deletions is not correct. A reanalysis of gene localization studies based on these deletion segregants suggests that some assignments of genes to specific bands on chromosome 11 should be reconsidered. In particular, data on additional deletion segregants are consistent with localization of the beta-globin gene complex to band 11p15. The data presented here suggest that in several hybrid derivatives of J1, a continuous DNA segment of approximately 10(7) base pairs in length which includes the insulin and HRAS1 (cellular homolog of retroviral oncogene Harvey ras) genes has been isolated from the remainder of the human genome. We propose that the stability of chromosome 11 in the original hybrid was due to complementation of a genetic defect in the original CHO cell parent by a gene located in close physical proximity to the insulin and HRAS1 genes on chromosome 11. Data are presented which test and support this hypothesis.

Animals↗

PubMed1987

Automation of routine clinical chromosome analysis. I. Karyotyping by machine.

An automated karyotyping system suitable for widespread use in clinical laboratories is described. The software is implemented on a general-purpose, commercially available image analyzer (Magiscan 2) using TV input from a conventional research microscope with minimal modification. The analysis is automatic, but operator interaction is used to resolve difficulties. Extensive experience with a routine clinical workload shows that the system is robust and easy to use and that its use results in a substantially increased laboratory throughput.

Chromosomes↗

PubMed1991

Surface marker analysis and karyotype distinguish acute biphenotypic leukemia from acute myelogenous leukemia expressing terminal deoxynucleotidyl transferase.

Surface phenotyping by flow cytometry and cytochemical study were used to identify 15 adult patients with acute leukemia displaying ambiguous phenotypes. Differences were found in the blast cell karyotype and immunoglobulin gene rearrangements of terminal deoxynucleotidyl transferase (TdT)-positive acute myelogenous leukemia (AML) and biphenotypic leukemia expressing B lymphoid and myeloid markers. The karyotypic abnormalities, t(9;22) and t(4;11), were noticed in acute biphenotypic leukemia, and were consistently associated with rearrangement at the immunoglobulin locus. Furthermore, coexpression of CD19/CD20 and either myeloperoxidase or myeloid surface markers were predictive of finding the t(9;22) or t(4;11) karyotype. Patients with TdT-positive AML, on the other hand, were less likely to show rearrangement at the immunoglobulin locus, and did not have the t(9;22) or t(4;11). Instead, a variety of nonrandom karyotypic abnormalities were seen, including trisomy 13. Unlike common AML, the majority of TdT-positive cases demonstrated an abnormal karyotype with duplications and/or deletions present in all cases. In no instance was trisomy 8, t(8;21), t(15;17), or any other isolated translocation identified. The authors therefore suggest that immunophenotyping, when combined with cytochemical analysis of TdT and myeloperoxidase or Sudan black B, may aid in the characterization of subgroups of atypical acute leukemia, such that alternate approaches to therapy can be evaluated.

Antigens, Neoplasm↗

PubMed2004

[Study on mixed lineage leukemia gene rearrangement in AML-M4/M5 by interphase fluorescence in situ hybridization].

OBJECTIVE: To explore the value of fluorescence in situ hybridization (FISH) in the detection of mixed lineage leukemia (MLL) rearrangement and to assess the incidence and prognostic significance of MLL gene rearrangement in AML-M4/M5. METHODS: Bone marrow chromosome preparation of 23 cases of acute myeloid leukemia(AML) consisting of 19 cases with M5 and 4 cases with M4 was made using direct method or short-term culture. Karyotypic analysis was carried out by R-banding technique. Dig labeled 11q23 probe which spans the breakpoint cluster region in MLL was used to detect the MLL rearrangement in the above 23 cases. RESULTS: R-banding karyotyping analysis revealed 11q23 translocation in 7 cases, while FISH analysis detected MLL rearrangement in 12 cases including the above 7 cases. CONCLUSION: Interphase FISH was more sensitive in detecting the MLL rearrangement in AML-M4/M5, compared with the conventional cytogenetic method. MLL rearrangement is highly related to AML-M4/M5; it is an indication of poor prognosis.

Adolescent↗

PubMed2000

Karyotyping for isolated neural tube defects. A report of two cases.

BACKGROUND: Neural tube defects occur in approximately 1 in every 1,000 live births. In the United States, chromosomal abnormalities have been noted in 2-10% of fetuses with neural tube defects; however, there is no consensus on whether to offer karyotype analysis to patients with isolated neural tube defects found on ultrasound. CASE: We reviewed the prenatal diagnosis database for the University of Washington between 1985 and 1997. We report on two fetuses who, on ultrasound, were found to have "isolated" neural tube defects. Karyotype analysis revealed trisomy 18 in both fetuses. The pregnancies were subsequently terminated, and autopsy revealed subtle syndromic findings that were not identified on ultrasound. CONCLUSION: Fetuses with isolated neural tube defects also appear to have a high risk of chromosomal abnormalities, so patients should be offered fetal karyotyping to define recurrence risks for future pregnancies.

Abortion, Therapeutic↗

PubMed2003

Repeated chromosome splitting targeted to delta sequences in Saccharomyces cerevisiae.

We have previously developed a chromosome-splitting technique based on homologous recombination in Saccharomyces cerevisiae. To facilitate chromosome splitting at multiple sites, we focused on the delta sequences that are distributed in more than 200 copies throughout the yeast genome. We constructed a new chromosome-splitting vector harboring the YFLWdelta4 sequence and the hisG-URA3-hisG cassette, and transformed yeast cells with this vector. The karyotype analysis of transformants showed that chromosomes XIV, III, and IV, or other chromosomes are split. After the excision of the URA3 gene, the transformant with split chromosome IV was subsequently transformed with the same vector. Karyotype analysis revealed that further splitting occurred at chromosome X, the split chromosome IV, or other chromosomes. These results indicate that delta sequences are efficient target sites for repeated chromosome splitting at multiple sites with a single vector.

Journal Article↗

PubMed1999

[Detection of bcr/abl gene expression on bone marrow cell colonies in chronic myelogenous leukemia by reverse transcriptase-polymerase chain reaction].

The t(9;22) (q34;q11) between abl and bcr genes plays a pivotal role in the diagnosis and pathogenesis of chronic myelogenous leukemia(CML). To explore the bcr/abl fusion mRNA expression on hematopoietic precursors, reverse transcriptase-polymerase chain reaction(RT-PCR) was applied to detect bcr/abl mRNA expression on bone marrow cell colonies. Meanwhile, bcr/abl mRNA expressions on 14- or 28-day colonies using HPP-CFC and CFU-GM semisolid agar culture assay were also determined in 4 cases of confirmed Ph-positive CML by karyotyping analysis. The results showed that the bcr/abl mRNA expressions on 14-day colonies and some 14- or 28-day colonies detected singly were positive at presentation by RT-PCR, in agreement with results by karyotype analysis. Thus, a sensitive and powerful technique was offered for studying gene expression on hematopoietic precursors, diagnosis and therapeutic monitoring of CML. Furthermore, this can be used as an ideal method for revealing molecular mechanisms of pathogenesis of CML and screening anti-CML drugs.

Adult↗

PubMed2003

[Establishment and characteristics of the human diploid cell strain HLF-02].

OBJECTIVE: To establish the HLF-02 and provide a new material to the study of geronics, oncology, virology, pharmacology, and biogenetics. METHODS: The lung tissue was digested with 0.15% trypsin. More than 90% of the dissociated cell exhibited initial viability (trypan blue dye exclusion and the ability of adhesion). The surviving cells were analyzed by morphology, growth curves, karyotype analysis, electron microscopic observation and heterotransplantation. RESULTS: A newly established cell strain, which was designated HLF-02 had been maintained in continuous culture for over 50 generations for 10 months. Morphological observation, electron microscopic observation, karyotype analysis and heterotransplantation showed that it was corresponding to diploid cells. The doubling time of the cells was 75.5 hours. Chromosome analyses showed the human cell strain to be typical diploid appearance, and the tumorigenecity assays of nude mice were negative. CONCLUSION: The HLF-02 is a human dipolid cell strain and can serve the further studies of cell gerontics, oncology, virology, pharmacology, and biogenetics.

Cell Line↗

PubMed1982

Comparative analysis of karyotypes in European shrew species. II. Constitutive heterochromatin, replication patterns, and sister chromatid exchanges in Sorex araneus and S. gemellus.

The chromosomes of the two closely related species Sorex araneus and S. gemellus were investigated by various methods for the determination of constitutive heterochromatin (C-band techniques, treatment of cell cultures with AT- and GC-base-pair-specific compounds, and analysis of late-replication patterns). With the exception of the Y1 sex chromosomes, no distinct heterochromatic regions like those in other mammals were demonstrated. Although use of a modified C-band technique produced moderately darkly stained bands, these did not have a definite heterochromatic character. Spontaneous sister chromatid exchanges (SCE's) occurred significantly more frequently in the Y1 chromosomes than in other chromosomes. Analysis of intrachromosomal frequencies of SCE's showed no significant deviations from a uniform random distribution.

Animals↗

PubMed1992

Normal high-resolution karyotypes in 26 unrelated individuals with hereditary colorectal neoplasia.

High-resolution karyotype analysis was performed on peripheral blood cultures from 26 patients with hereditary colorectal neoplasia. The aims of this study were: first, to determine the frequency of cytogenetically visible chromosome 5q deletions in familial adenomatous polyposis and, thus, whether routine karyotype analysis should be included in screening regimens for affected families; and, second, to search for chromosomal abnormalities in hereditary nonpolyposis colorectal cancer that might assist in localizing the gene or genes responsible. No cytogenetic abnormalities were detected among 21 unrelated patients with familial adenomatous polyposis and five with hereditary nonpolyposis colorectal cancer. We conclude that cytogenetic analysis is of no value in the management of families with typical familial adenomatous polyposis or Gardner's syndrome, and should be confined to those families with atypical features such as mental retardation or facial dysmorphism.

Adenomatous Polyposis Coli↗

PubMed1989

Bilateral testicular and adrenal malignant lymphoma of pre B-cell type.

A rare case of pre B-lymphoblastic lymphoma of the testes and adrenal glands is presented. No lymph node, central nervous system or bone marrow involvement was demonstrated at diagnosis. The primary presentation was of acute unilateral pain and swelling, mimicking simple orchitis. The diagnosis was made using aspiration cytology and the lymphoma characterized using immunohistochemical, electron microscopic and karyotype analysis techniques. Pre B-cell markers were clearly demonstrated by all criteria used. Monoclonal antibodies (FMC 29 and FMC 31) were used to define the early B-cell nature of the lymphoma. Confirmation using karyotype analysis in addition to immunoglobulin and T-cell beta-receptor gene rearrangement was obtained. Intrathecal chemotherapy was used prophylactically. Combination chemotherapy produced regression of the primary lymphomatous lesions, but subsequent bone marrow spread led to death.

Adrenal Gland Neoplasms↗

PubMed2000

Detection of chromosome imbalances in retinoblastoma by parallel karyotype and CGH analyses.

We have studied a series of 20 primary retinoblastomas by karyotypic analysis and comparative genomic hybridization (CGH), to perform an exhaustive evaluation of chromosome imbalances in this tumor. In addition, 4 tumors were studied by CGH only. On the whole, CGH results were largely in agreement with those of karyotypic analysis and with known cytogenetic data. The most frequent imbalances were +6p (13/24 cases), +1q (12/24), -16/-16q (11/24), and +2p (9/24). Recurrent high-level amplifications were observed in 2p23-25 and 1q21. Amplification of 2p23-25, present in 4 cases among which 3 showed double-minute chromosomes, was related to MYCN amplification, as demonstrated by FISH and PCR. No evident correlation was found in this small series between any of the imbalances identified and either the differentiation or the histoprognostic risk.

Adolescent↗

PubMed1998

Translocation (1;20)(q32;q13.3) in myelofibrosis following polycythemia vera.

We report a novel chromosomal translocation (1;20)(q32;q13.3) in a patient with myelofibrosis following polycythemia vera. This 73-year-old woman developed myelofibrosis 6 years after the initial diagnosis of polycythemia vera (PV). The course of PV was uneventful. Subsequent to the diagnosis, the patient was treated with phlebotomy and low doses of hydroxyurea for 4 years. No therapy was delivered during the remaining 2 years. A bone-marrow biopsy and a karyotype analysis performed because of evolving anemia demonstrated myelofibrosis and a chromosomal aberration-t(1;20)(q32;q13.3). Aberrations in chromosomes 1 and 20 have been reported in myeloproliferative disorders, but a t(1;20) translocation has not been reported. Because a karyotype analysis was not performed at the time PV was diagnosed, whether this translocation is linked to the primary disease (PV) or to the transition to myelofibrosis is not known.

Aged↗

PubMed2002

Clinical and experimental study of two cases of myelodysplastic syndrome with t(3; 5) (q25; q34) translocation.

OBJECTIVE: To report two myelodysplatic syndromes (MDS) patients with t(3; 5) (q25; q34). METHODS: Chromosome specimens were prepared by short-term culture of bone marrow cells. Karyotype analysis was performed by R banding technique, chromosome painting (fluorescence in situ hybridization, FISH) by using whole chromosome 3 and 5 probes in case 1. RESULTS: The clinical and hematological findings were compatible with diagnosis of MDS. Karyotype analysis showed that both patients had identical t(3; 5) (q25; q34) translocation. A reciprocal translocation between chromosomes 3q and 5q was proved by FISH in one patient. CONCLUSIONS: t(3; 5) translocation is a rare chromosome abnormality specifically associated with MDS and frequently displays trilineage dysplasia. Chromosome painting technique is a reliable tool for detecting this translocation.

Adolescent↗

PubMed1999

Congenital disseminated malignant rhabdoid tumor: a distinct clinicopathologic entity demonstrating abnormalities of chromosome 22q11.

The clinical, pathologic, and immunohistochemical features of a widely disseminated tumor with rhabdoid phenotype are described in nine infants < or = 3 months of age. Five neonates had tumor evident at birth, two of which had placental metastases. The average survival following diagnosis was < 6 weeks. None of the infants had an apparent primary tumor in either the kidney or brain. In four cases, the dominant mass involved the head and neck region, and in two cases, the primary mass was paraspinal. The histologic features were those of a high-grade, round cell neoplasm with abundant cytoplasm and containing cells with cytoplasmic filamentous inclusions. Immunohistochemical studies revealed polyphenotypic antigen expression. Genetic information was available from eight of nine cases. Karyotype analysis revealed abnormalities of chromosome band 22q11-12 in three of six tumors. Fluorescence in situ hybridization studies or molecular studies demonstrated 22q11.2 deletions in all five cases with available frozen tissue, two of which had translocations involving 22q by karyotype analysis. The similar clinical and pathologic findings in these rapidly fatal tumors in infants and the demonstration of abnormalities of chromosome 22q11 in a majority of the cases supports their histogenetic and nosologic relationship to the family of malignant rhabdoid tumors that typically occur in young children in several anatomic sites, including kidney, soft tissues, liver, and brain. Like neuroblastoma and rhabdomyosarcoma, malignant rhabdoid tumor can appear as disseminated disease at birth or shortly thereafter.

Chromosomes, Human, Pair 22↗

PubMed2005

[Clinical and experimental study of two cases of myelodysplastic syndromes with double isochromosome 20q- anomaly].

OBJECTIVE: To explore the clinical and laboratory characteristics of two myelodysplastic syndromes (MDS) patients with double isochromosome 20q- anomaly. METHODS: Bone marrow cell chromosome preparations were made with both direct method and short-term culture. Karyotype analysis was performed by R-banding technique, and dual-color FISH (fluorescence in situ hybridization) by using a 20q telomeric probe and a sequence-specific probe for 20q12. RESULTS: The clinical and hematological findings were comparable with diagnosis of MDS. Karyotype analysis showed that both patients had double isochromosome 20q- anomaly: case 1 is 46, XX, der(20)? i(20q-) [6]/46, idem, der (6) i (6p) [1]/47, idem, +der (20)? i (20q-) [3]/47, idem, der(6)i (6p), +der(20)? i (20q-) [20]; case 2 is 45, XY, -7, der (20)? i (20q-) [17]/46, idem, +der(20) ? i(20q-) [3]. Two derivative chromosomes 20 were proved 20q isochromosomes with interstitial deletions by dual-color FISH in one patient. CONCLUSIONS: Double isochromosome 20q- anomaly is a rare recurrent karyotype abnormality in MDS, and signals a poor prognosis.

Chromosome Banding↗

PubMed2006

[Analysis of DEK-CAN fusion gene expression in acute myeloid leukemia patients with 6; 9 chromosome translocation].

This study was aimed to explore the relationship of 6; 9 chromosome translocation with DEK-CAN fusion gene expression in patients with acute myeloid leukemia (AML) and its clinical significance. Chromosome specimens were prepared by routine method after short-term culture of bone marrow cells; karyotype analysis was performed by R banding technique; the expression of fusion gene DEK-CAN was analyzed by RT-nested-PCR in mononuclear cells of bone marrow or peripheral blood of 4 AML patients, for 3 patients received allo-BMT out of 4 patients the dynamic follow-up was performed. The results indicated that t (6; 9) (p23; q34) was confirmed by chromosome karyotype analysis in the four AML patients. The DEK-CAN fusion gene was found during in all four de novo, relapsed and CR patients (100%). And the expression of DEK-CAN fusion gene enhanced apparently in de novo and relapsed patients, and weakened in CR patient. DEK-CAN mRNA was found in the three patients during 1-24 months after allo-BMT. Clinical data showed 2 patients relapsed and died after CR for 1-24 months; the other two patients received allo-BMT got CR and still survive. It is concluded that DEK-CAN fusion gene is the molecular basis in pathogenesis of AML. The detection of DEK-CAN fusion gene is significant for diagnosis of AML, evaluation of curative effect, and predication of prognosis.

Acute Disease↗

PubMed2006

Comparative genomic analysis links karyotypic evolution with genomic evolution in the Indian muntjac (Muntiacus muntjak vaginalis).

The karyotype of Indian muntjacs (Muntiacus muntjak vaginalis) has been greatly shaped by chromosomal fusion, which leads to its lowest diploid number among the extant known mammals. We present, here, comparative results based on draft sequences of 37 bacterial artificial clones (BAC) clones selected by chromosome painting for this special muntjac species. Sequence comparison on these BAC clones uncovered sequence syntenic relationships between the muntjac genome and those of other mammals. We found that the muntjac genome has peculiar features with respect to intron size and evolutionary rates of genes. Inspection of more than 80 pairs of orthologous introns from 15 genes reveals a significant reduction in intron size in the Indian muntjac compared to that of human, mouse, and dog. Evolutionary analysis using 19 genes indicates that the muntjac genes have evolved rapidly compared to other mammals. In addition, we identified and characterized sequence composition of the first BAC clone containing a chromosomal fusion site. Our results shed new light on the genome architecture of the Indian muntjac and suggest that chromosomal rearrangements have been accompanied by other salient genomic changes.

Animals↗