Human chromosome-specific repetitive DNA sequences: novel markers for genetic analysis

Moyzis, Robert K.; Albright, Kevin L.; Bartholdi, Marty F.; Cram, L.S.; Deaven, Larry L.; Hildebrand, C.E.; Joste, Nancy E.; Longmire, Jonathan L.; Meyne, Julianne; Schwarzacher-Robinson, Trude

doi:10.1007/bf00333988

Cited by 251 publications

(129 citation statements)

References 96 publications

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“…To detect was performed as described by Dauwerse et al, 29 except that deletions proximal of the p-arm breakpoint, one-color FISH FITC-avidin was used for detecting biotin-labeled probes and was performed on metaphase chromosomes with the pHuR 10 g/ml sheep anti-mouse Cy3 (Sigma, Buchs, Switzerland) 195 probe specific for the heterochromatic region of chromofor detecting mouse anti-DIG. DNA was counterstained with some 16 27 and the cosmid probe zit14. 15 To confirm results DAPI or propidium iodide and slides were mounted with an obtained in mosaic patients, the zit18 cosmid probe was used anti-fade solution (Vectashield; Vector).…”

Section: Conventional Cytogeneticsmentioning

confidence: 99%

Detection of 16 p deletions by FISH in patients with inv(16) or t(16;16) and acute myeloid leukemia (AML)

et al. 1997

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for the relatively favorable outcome in this group. However, Keywords: inv(16)(p13q22); t(16;16)(p13;q22); 16 p deletions; FISH; acute myeloid leukemia; prognosis in another study, no difference in prognosis was observed between deletion and non-deletion patients. 18 To assess further the incidence of the 16 p deletions and to improve the understanding of their prognostic significance, we Introduction studied 15 patients with AML and inv(16) or t(16;16) by fluorescence in situ hybridization (FISH) using the zit14 cosmid In 1983, Arthur and Bloomfield 1,2 reported five patients with as a probe. Clinical, cytogenetic and FISH data are reported acute myeloid leukemia (AML) of myelomonocytic type (M4), here. increased marrow eosinophils and a structurally abnormal chromosome 16. Soon after, a pericentric inversion of chromosome 16, inv(16)(p13q22), was described in 18 patients Patients, materials and methods who had M4 leukemia and morphologically abnormal eosinophils with irregular, basophilic-staining granules and distinct Patients cytochemical properties. 3,4 A related chromosome abnormality, t(16;16)(p13;q22), was reported in one patient with Fifteen patients with either inv(16) or t(16;16) were diagnosed similar characteristics. 5 Further studies have suggested that at the divisions of hematology of the University Hospitals of these two abnormalities were uniquely associated with M4 Zü rich (four patients), Basel (three), Bern (three), Lausanne and abnormal eosinophils and the correlation between the (two) and of the Canton Hospitals of Sankt-Gallen (two) and karyotype and morphology has led to a subcategory in the Aarau (one) between 1992 and 1995 (Table 1). Each patient FAB classification, namely M4Eo. 6 However, both rearrangewas assigned a unique patient number for this and previous ments have been reported in other types of myeloid dispublications. [19][20][21] Additionally, 10 patients with AML (nine) or orders. 7,8 In most studies, the presence of inv(16)/t(16;16) has acute lymphoblastic leukemia (ALL) (one) and normal karyobeen associated with a high cure rate with standard chemotypes or aberrations other than inv(16) or t(16;16) were investitherapy and a relatively favorable prognosis. [9][10][11][12][13] gated by FISH and served as controls. Informed consent was Inv(16) and t(16;16) have been shown to involve, on 16p13, obtained from each patient. a smooth muscle myosin heavy chain gene (MYH11) and, onThe diagnosis and classification of patients were based on morphologic and cytochemical examination of peripheral blood (PB) films, bone marrow (BM) aspirate and biopsy speci-

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Section: Conventional Cytogeneticsmentioning

confidence: 99%

Detection of 16 p deletions by FISH in patients with inv(16) or t(16;16) and acute myeloid leukemia (AML)

et al. 1997

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“…The chromosome 9 probe was generated using primers complementary to the sequence (pHuR98) reported by Moyzis et al (15). The primers were AATCAAC-CCGAGTGCAATC and TTCCATTCCATTCCTGTAC.…”

Section: Fish Probesmentioning

confidence: 99%

Bladder irrigation specimens assayed by fluorescence in situ hybridization to interphase nuclei

Wheeless¹,

Reeder²,

Han³

et al. 1994

Cytometry

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Bladder irrigation specimens provide a sampling of the entire bladder urothelium and are the most practical sample for longitudinally monitoring patients. This study presents cross-sectional fluorescence in situ hybridization (FISH) analyses with correlated DNA cytometry data on 76 patients monitored for recurrent bladder tumors. FISH probes complementary to centromeric satellite sequences for chromosomes 1, 7, 9, l l , 15, and 17 were used. Aberrations in copy number were observed for chromosomes 1, 7, 11, and 17 principally in patients with aneuploid tumors. Monosomy of chromosome 9 was observed in 39% of the diploid and 31% of the specimens with high hyperdiploid fraction. Significantly, 24% of patients with a history of bladder cancer but with no clinical evidence of disease exhibited monosomy of chromosome 9. This suggests a persistent and significantly large population of abnormal cells in the absence of clinical evidence of disease. Loss of chromosome 9 relative to DNA ploidy was observed in 24% of patients with no evidence of disease, in 59% of patients with tumor, and in 79% of patients with histologically confirmed transitional cell carcinoma, grades 1-3. Loss of chromosome 15 was also observed in a large percentage of patients. Loss of chromosome 15 was observed in 41% of specimens from patients in whom no tumor was seen, in 38% of specimens from patients with tumor, and in 67% of specimens from patients with histologically confirmed transitional cell carcinoma. Results of this study document the use of bladder irrigation specimens as a specimen source for FISH analyses. The ability to perform FISH analyses on bladder irrigation specimens from patients followed for recurrent bladder cancer is important in that it offers the potential of studying early genetic events as well as correlating specific aberrations with progression and recurrence. 0 1994 Wiley-Liss, Inc.Key terms: Bladder neoplasia, DNA cytometry, tumor markers, chromosomes Quantitative measurements of bladder tumor DNA content have been performed for over a decade and provide limited clinical information. The maximal utility of DNA cytometry has been in stratifying grade 2 superficial (Ta, TI, TIS) tumors with respect to risk of progression and in monitoring intravesical therapy (26). Measurement of DNA content by flow or image cytometry is limited in sensitivity to the addition or loss of several whole chromosomes and does not fully provide the individual prognostic information on progression and recurrence so needed in the clinical management of patients with bladder cancer.The detection of numerical chromosomal aberrations by fluorescence in situ hybridization (FISH) has been shown to be useful in the study of bladder cancer. Aberrations involving chromosomes 1, 3, 5, 7, 9,

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“…Gray (University of California, San Francisco, CA), probe pUC1.77 specific for band lq12 [13], and probe pHUR 195 specific for 16q12 [14] provided by P. Devilee (University of Leiden, The Netherlands). YAC clone HTY 3150 provided by H. Riethman (The Wistar Institute, Philadelphia, PA) and H. Donis-Keller (Washington University, St. Louis, MO) was mapped to 16p11.2 in our laboratory.…”

Section: Introductionmentioning

confidence: 99%

Characterization of two marker chromosomes in a patient with acute nonlymphocytic leukemia by two-color fluorescence in situ hybridization

Speicher

Lengauer

Jauch

et al. 1993

Cancer Genetics and Cytogenetics

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Human chromosome-specific repetitive DNA sequences: novel markers for genetic analysis

Cited by 251 publications

References 96 publications

Detection of 16 p deletions by FISH in patients with inv(16) or t(16;16) and acute myeloid leukemia (AML)

Detection of 16 p deletions by FISH in patients with inv(16) or t(16;16) and acute myeloid leukemia (AML)

Bladder irrigation specimens assayed by fluorescence in situ hybridization to interphase nuclei

Characterization of two marker chromosomes in a patient with acute nonlymphocytic leukemia by two-color fluorescence in situ hybridization

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