Trisomy 21 for the region 21q223: Identification by high-resolution R-banding patterns

1981 ◽  
Vol 56 (3) ◽  
pp. 409-411 ◽  
Author(s):  
J. F. Mattei ◽  
M. G. Mattei ◽  
M. A. Baeteman ◽  
F. Giraud
Keyword(s):  
High Resolution ◽  
Trisomy 21 ◽  
Banding Patterns

G-banding patterns of high-resolution human chromosomes 6?22, X, and Y

1979 ◽  
Vol 49 (3) ◽  
pp. 291-306 ◽  
Author(s):  
J. J. Yunis ◽  
D. W. Ball ◽  
J. R. Sawyer
Keyword(s):  
High Resolution ◽  
Human Chromosomes ◽  
Banding Patterns

A High Resolution Analysis of Chromosome 21 Amplification In Myeloid Malignancies Reveals An Association with a Specific Cytogenetic Subgroup and Enhanced ERG Gene Expression.

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 1687-1687
Author(s):  
Hideki Makishima ◽  
Hideki Muramatsu ◽  
Asahito Hama ◽  
Ramon V. Tiu ◽  
Yuka Sugimoto ◽  
...  
Keyword(s):  
Gene Expression ◽  
Down Syndrome ◽  
High Resolution ◽  
Copy Number ◽  
Trisomy 21 ◽  
Chromosome 21 ◽  
Mrna Levels ◽  
Myeloid Malignancies ◽  
Runx1 Gene ◽  
Cd34 Cells

Abstract Abstract 1687 Genetic alterations including chromosomal translocation, somatic mutation, and gene amplification are thought to play a key role in oncogenesis. Gains of whole or segmental chromosome 21 (Ch21) are observed in many types of myeloid malignancies and are often associated with acute megakaryoblastic leukemia (AMKL). In Down syndrome, transient abnormal myelopoiesis and acute lymphoblastic leukemia can be observed, but the prevalence of AMKL is striking. In rare Down syndrome patients, a subcytogenetic Ch21 minimal amplified region is observed and always found to include ERG as well as the RUNX1 gene locus. Recently, gain of ERG gene copy number has been demonstrated to induce leukemia in mouse models and mutations in RUNX1 have been reported in patients with myeloid malignancies with somatic trisomy 21. The pathogenic gene(s) driving malignant disease in congenital and/or somatic gain of Ch21 are poorly understood. We applied high resolution single nucleotide polymorphism array (SNP-A) to study whether small copy number gains are present on Ch21, which cannot be seen by metaphase cytogenetics. We also tested for potential synergistic karyotypic abnormalities in the patients with gain of Ch21 gene segments. We screened a large cohort of 522 patients with myeloid malignancies by SNP-A platform, and detected 36 events that included whole or partial amplification of Ch21 in 32 cases (6%). The affected length was between 215,063 and 46,944,323 bp and the average was 30,732,002. These include 13 congenital lesions (AMKL evolving in Down syndrome), and 23 somatic alterations. Among the AMKL cohort of 34 cases, gains of Ch21 were observed in 15/25 (60%) juvenile and 2/9 (22%) adult cases. A minimal consensus amplification region was defined from nt38637816 to nt38852879 on Ch21 and this region included ERG. Amplification of ERG was identified in 30/36 of the Ch21 gain lesions studied. Although we sequenced all exons of the ERG gene in all cases with Ch21 gain, no mutation was detected. Based on the possibility that gene amplification leads to increased gene expression, ERG mRNA levels were investigated. CD34+ cells showed the highest ERG expression among hematopoietic cell types. When CD34+ cells from acute myeloid leukemia (AML) patients with somatic trisomy 21, with normal copy of Ch21 and healthy donors were investigated by real time PCR, relative expression of ERG was the highest in trisomy 21 patients among three groups. Based on our previous work and that of others, we tested the mutational status of RUNX1 in the 23 cases with Ch21 amplification that included RUNX1. Mutations were found in 2/23 (9%) accompanied by trisomy 21. No mutation was found in patients with Down syndrome. In one mutant case, a homozygous missense mutation, (L56S) was identified and associated with uniparental trisomy that included RUNX1. The second mutant case (W106L) was in a patient with a 45,XY,-7,i(21)(q10) karyoptype. The mutation was duplicated but was not associated with loss of heterozygosity (LOH). When RUNX1 gene expression in the cases with and without trisomy 21 using CD34 positive bone marrow cells was investigated, no significant difference in relative RUNX1 mRNA levels between trisomy 21 and cases with diploid Ch21 was found. Finally, we evaluated whether additional chromosomal lesions were associated with a gain of Ch21 gene segments. Recurrent losses were detected on chromosome 1, 2, 3, 5, 7, 9, and 17. Deletions of 5q were frequent in the cases with somatic gain of Ch21 (47%; 8/17), while no del5q was detected in the cases with Down syndrome. Conversely, LOH17p (3 uniparental disomies (UPDs) and 2 deletions) was found in both somatic and congenital cases (5/32), with one case of deletion17p associated with a hemizygous p53 mutation. In addition, UPD11q was accompanied by a CBL homozygous mutation in a RAEB case with somatic trisomy 21. Del7q was also observed in both groups (4 in somatic and 3 in congenital cases), including a 7q36.1 microdeletion associated with EZH2 in AMKL with Down syndrome. In sum, our study demonstrates that high resolution SNP-A analysis focused on Ch21 gene segments revealed frequent cryptic somatic gain lesions and a uniparental trisomy. ERG was the sole gene located in the minimally shared gain lesions and is overexpressed in a wild type form in AML cases with somatic trisomy 21. RUNX1 mutations were found in 3 or 2 identical alleles of somatic trisomy 21 cases but are absent in most cases of trisomy 21. Disclosures: No relevant conflicts of interest to declare.

High resolution G-banding patterns of Syrian hamster chromosomes

1982 ◽  
Vol 33 (4) ◽  
pp. 295-302 ◽  
Author(s):  
S. Li ◽  
S. Pathak ◽  
T.C. Hsu
Keyword(s):  
High Resolution ◽  
Syrian Hamster ◽  
Banding Patterns

Analysis of high-resolution R-bands, obtained by heat-denaturation and Giemsa staining, on human prophase chromosomes

1985 ◽  
Vol 27 (1) ◽  
pp. 83-91 ◽  
Author(s):  
R. Drouin ◽  
C. L. Richer
Keyword(s):  
High Resolution ◽  
Banding Pattern ◽  
Giemsa Staining ◽  
Heat Denaturation ◽  
Banding Patterns ◽  
International Standard

RHG-bands (heat-denatured Giemsa R-bands) of human prophase chromosomes were analyzed at high resolution, and the banding patterns at prophase and metaphase are presented. The bands were compared with those of the International Standard Cytogenetic Nomenclature idiograms and of the G-band idiograms proposed by J. J. Yunis. The number, size, and position of the RHG-bands correspond rather well with their equivalent G-negative bands, but some differences were noted in the zones of preferential stretching, the juxtacentromeric regions, and the telomeres. Variations in the centromere index and the banding pattern in heterochromatin were also discussed.Key words: human prophase chromosomes, RHG-bands, high-resolution chromosomes.

scholarly journals MICROFLUOROMETRIC ANALYSIS OF DEOXYRIBONUCLEIC ACID REPLICATION KINETICS AND SISTER CHROMATID EXCHANGES IN HUMAN CHROMOSOMES

1974 ◽  
Vol 22 (7) ◽  
pp. 478-491 ◽  
Author(s):  
SAMUEL A. LATT
Keyword(s):  
High Resolution ◽  
Dna Synthesis ◽  
Sister Chromatid ◽  
Deoxyribonucleic Acid ◽  
Sister Chromatid Exchanges ◽  
Human Chromosomes ◽  
Metaphase Chromosomes ◽  
Banding Patterns ◽  
Human Leukocytes ◽  
Chromatid Exchanges

Fluorescence of the dye 33258 Hoechst, when bound to chromosomes, is partially quenched by the incorporation of 5-bromodeoxyuridine into chromosomal deoxyribonucleic acid (DNA). This effect allows microfluorometric analysis of DNA synthesis. Metaphase chromosomes from cultured human leukocytes which have incorporated 5-bromodeoxyuridine for a portion of the DNA synthesis period exhibit reduced 33258 Hoechst fluorescence in 5-bromodeoxyuridine-containing regions. Regions synthesizing DNA during a particular interval can thus be highlighted by the appropriate protocol of 5-bromodeoxyuridine administration. Chromosomes from cells which have replicated twice in medium containing 5-bromodeoxyuridine exhibit one brightly and one dully fluorescing chromatid, reflecting incorporation of 5-bromodeoxyuridine into one or two chains of chromatid DNA, respectively. Sister chromatid exchanges, evident as sharply demarcated reciprocal alterations in fluorescence along chromosomes, can be located relative to quinacrine banding patterns. This fluorometric approach should be useful in many instances as a convenient, high resolution alternative to autoradiography.

Observations of the spatial structure of interstellar hydrogen

1967 ◽  
Vol 31 ◽  
pp. 45-46
Author(s):  
Carl Heiles
Keyword(s):  
High Resolution ◽  
Spatial Structure ◽  
Velocity Dispersion ◽  
Temperature Variations

High-resolution 21-cm line observations in a region aroundlII= 120°,b11= +15°, have revealed four types of structure in the interstellar hydrogen: a smooth background, large sheets of density 2 atoms cm-3, clouds occurring mostly in groups, and ‘Cloudlets’ of a few solar masses and a few parsecs in size; the velocity dispersion in the Cloudlets is only 1 km/sec. Strong temperature variations in the gas are in evidence.

Combining integrated systems-biology approaches with intervention-based experimental design provides a higher-resolution path forward for microbiome research

2019 ◽  
Vol 42 ◽  
Author(s):  
J. Alfredo Blakeley-Ruiz ◽  
Carlee S. McClintock ◽  
Ralph Lydic ◽  
Helen A. Baghdoyan ◽  
James J. Choo ◽  
...  
Keyword(s):  
Systems Biology ◽  
High Resolution ◽  
Experimental Design ◽  
Integrated Systems ◽  
Microbiome Research ◽  
Constructive Criticism

Abstract The Hooks et al. review of microbiota-gut-brain (MGB) literature provides a constructive criticism of the general approaches encompassing MGB research. This commentary extends their review by: (a) highlighting capabilities of advanced systems-biology “-omics” techniques for microbiome research and (b) recommending that combining these high-resolution techniques with intervention-based experimental design may be the path forward for future MGB research.

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