Chromosome Banding in Amphibia. XXXV. Highly Mobile Nucleolus Organizing Regions in Craugastor fitzingeri (Anura, Craugastoridae)

2017 ◽  
Vol 152 (4) ◽  
pp. 180-193 ◽  
Author(s):  
Michael Schmid ◽  
Claus Steinlein ◽  
Wolfgang Feichtinger ◽  
Indrajit Nanda
Keyword(s):  
Chromosome Banding ◽  
Cytogenetic Study ◽  
Variable Number ◽  
28S Rdna ◽  
Fish Analysis ◽  
Intraindividual Variation ◽  
Length Polymorphisms ◽  
Somatic Tissues

A 7-year cytogenetic study on the leaf litter frog Craugastor fitzingeri from Costa Rica and Panama revealed the existence of highly mobile nucleolus organizing regions (NORs) in their genomes. Silver (Ag)-staining of the active NORs demonstrated an exceptional interindividual pattern of NOR distribution at the telomeres of the chromosomes. All individuals examined showed a different and specific NOR location in their karyotypes. Furthermore, intraindividual variation in the NOR sites was found. This observation suggested the existence of mobile NORs in C. fitzingeri. Confirmation of this phenomenon was possible by systematic FISH analysis using an 18S + 28S rDNA probe. The extremely variable number and position of the NORs in C. fitzingeri is best explained by highly mobile NORs that move freely between the telomeres of the chromosomes. These transpositions must occur preferentially in premeiotic, meiotic, or postmeiotic stages, but also at a lower incidence in the somatic tissues of the animals. It is hypothesized that transposable (mobile) elements are closely linked to the NORs or are inserted into the major 18S + 28S rDNA spacers of C. fitzingeri. When such transposable elements spread by transpositions, they can carry with them complete or partial NORs. The present study provides detailed information on various differential chromosome banding techniques, in situ hybridization experiments, chromosomal hypermethylation patterns, determination of the genome size, and analyses of restriction fragment length polymorphisms of the DNA.

Variable Number of Tandem Repeats in Zygosity Diagnosis in Twins

1990 ◽  
Vol 39 (4) ◽  
pp. 473-477 ◽  
Author(s):  
S. Costanzi Porrini ◽  
A. Sciarra ◽  
N. Sulli ◽  
M. Piane ◽  
R. Gualtieri ◽  
...  
Keyword(s):  
Population Genetics ◽  
Tandem Repeat ◽  
Tandem Repeats ◽  
Variable Number ◽  
Hla Typing ◽  
Blood Group Antigens ◽  
Length Polymorphisms ◽  
Dna Restriction ◽  
Restriction Fragment Length

AbstractThe use of DNA restriction fragment length polymorphisms (RFLP) to analyze variable number of tandem repeat (VNTR) sequences dispersed in the human genome, has become a powerful tool for the study of population genetics due to the very substantial polymorphism involved. Because the markers usually employed for twin zygosity determination (such as sex combination, placentation, HLA typing, blood group antigens, etc) may not be uniformly informative, we propose the use of synthetic olygonucleotides, representing VNTR “core” sequences, for the determination of zygosity in twins.

Determination of the potential of detecting 3q gain as a valuable biomarker in the management of patients with human papilloma virus (HPV) associated oropharyngeal squamous cell carcinoma (OPSCC).

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e17534-e17534
Author(s):  
Upendra P. Hegde ◽  
Eric Kershnar ◽  
Robert Dowsett ◽  
Sophie Masternak ◽  
Yogita Verma ◽  
...  
Keyword(s):  
Significant Proportion ◽  
Common Disease ◽  
Fish Analysis ◽  
Cervical Lesions ◽  
Invasive Method ◽  
Rare Cells ◽  
The University ◽  
University Of Connecticut

e17534 Background: The most recurrent structural chromosomal aberration in HPV associated cervical cancer is gain of the 3q26 locus testing of which has clinical utility in management of patients with cervical lesions. A significant proportion of OPSCC are HPV mediated, suggesting the possibility of a common disease mechanism. The objective of this study is to determine the potential clinical validity of assessing 3q gain as a biomarker in the management of patients with HPV associated OPSCC. Methods: An oral swab using a cytological brush was obtained of the region containing visualized tumor site in newly diagnosed HPV associated OPSCC patients following written informed consent of an IRB approved protocol at the University of Connecticut. The swabs were obtained at the diagnosis and serially after chemotherapy and/or chemo-radiotherapy as well as at 3 months after treatment completion. The specimens’ 3q gain status was determined by fluorescent in situ hybridization (FISH) analysis, utilizing robotic fluorescence microscopy for detection of rare cells demonstrating high 3q26 copy number Results: 54 specimens were collected from 13 patients, of which slides were prepared, hybridized and analyzed from 50. Data was not available in four specimens due to insufficient cells while for eight patients, multiple specimens were obtained before, during and after 3 months of treatment. Depending on the specimen’s cellularity, up to 170,969 cells were analyzed. Cells with > 4 copies of the 3q26 locus were detected in 32 of the 50 analyzable specimens. For several patients, the number of cells with more than four 3q26 signals detected in the later time points of treatment was lower than the number detected at diagnosis. Conclusions:This preliminary dataset demonstrates the ability to detect gain of the 3q26 locus in cells collected by cytological brushing of the region containing an OPSCC. The approach offers the possibility of a minimally invasive method to determine the 3q26 gain status as a reliable biomarker of HPV associated OPSCC that might have value in early diagnosis and management.

scholarly journals Giant Retroperitoneal Mucinous Tumor Supportively Diagnosed as a Dedifferentiated Liposarcoma by Fluorescence In Situ Hybridization of MDM2 Gene

ISRN Urology ◽  
2011 ◽  
Vol 2011 ◽  
pp. 1-4
Author(s):  
Taku Naiki ◽  
Shuzo Hamamoto ◽  
Noriyasu Kawai ◽  
Aya Naiki-Ito ◽  
Yoshiyuki Kojima ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Therapeutic Strategy ◽  
Dedifferentiated Liposarcoma ◽  
Fish Analysis ◽  
Mdm2 Gene ◽  
Double Minute ◽  
Murine Double Minute

Surgical resection was performed on a 47-year-old woman for a retroperitoneal mass that weighed 8.5 kg. Histological examination revealed a myxoid sarcomatous tumor. Because diagnosis could not be determined by immunohistochemistry, attention was focused on MDM2 (murine double minute) gene amplification by fluorescence in situ hybridization (FISH) analysis. The tumor was finally determined to be a dedifferentiated liposarcoma. We experienced a case of a giant retroperitoneal dedifferentiated liposarcoma. FISH analysis was useful for the diagnosis and determination of the therapeutic strategy.

Fluorescent in Situ Hybridization Analysis at Bone Marrow Biopsy Section in Multiple Myeloma.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 4898-4898
Author(s):  
Eun Hae Cho ◽  
Sang-Mi Lee ◽  
Hyeon-Seok Eom ◽  
In-Suk Kim ◽  
Gyeong-Won Lee ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Bone Marrow ◽  
In Situ Hybridization ◽  
Plasma Cell ◽  
Plasma Cells ◽  
Cytogenetic Study ◽  
Fish Analysis ◽  
Molecular Cytogenetic ◽  
Plasma Cell Neoplasms

Abstract Abstract 4898 Introduction The technique of fluorescence immunophenotyping and interphase cytogenetics as a tool for the investigation of neoplasms has recently been introduced to detect molecular cytogenetic abnormalities in plasma cell myeloma of bone marrow (BM) aspirate. However, in case of sub-optimal BM aspirate or the focal distribution of myeloma in the BM, the plasma cells are significantly lower in the BM aspirate than those of biopsy section. Therefore, we have developed a sensitive fluorescence in situ hybridization (FISH) technique which is combined with immunochemistry and is applicable to BM biopsy section for molecular cytogenetic study of plasma cell neoplasms. Patients and Methods Conventional cytogenetic analysis and FISH results of BM samples of 35 multiple myeloma (MM) patients at the time of diagnosis have been evaluated. The probe for IgH rearrangement has been used for hybridization with myeloma cells coupled with CD138 immunostain at BM biopsy section. Results Nineteen patients (54.3%) had abnormal FISH IgH results in biopsy section, whereas seven (20%) cases had abnormal findings in BM aspirate. FISH IgH analysis at biopsy section revealed various signal patterns and proportions (range 6-87%) of cells with atypical signals out of CD138 positive cells. Among five cases with <10% of plasma cells at BM aspirate, four (80%) had abnormal FISH results at biopsy section, whereas one (20%) had abnormal signals at aspirate. There is no correlation between the proportions of cells with atypical signal corrected by the plasma cell count at BM aspirate and the proportions of cells with atypical signal at biopsy section. Conclusions FISH analysis combined with immunostain which is applied at biopsy section is a highly sensitive and convenient technique to detect and quantify monoclonal plasma cells. It could be used for molecular cytogenetic study in plasma cell neoplasms even though there are less than 10% of plasma cells at BM aspirate and the monitoring of residual disease. Disclosures Kong: National cancer center, Korea: Research Funding.

Use of fluorescence in situ hybridization to detect loss of chromosome 10 in astrocytomas

1995 ◽  
Vol 83 (2) ◽  
pp. 316-323 ◽  
Author(s):  
Stephen J. Dalrymple ◽  
John F. Herath ◽  
Steven R. Ritland ◽  
Cheryl A. Moertel ◽  
Robert B. Jenkins
Keyword(s):  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Fish Analysis ◽  
Chromosome 10 ◽  
Content Type ◽  
Valuable Adjunct ◽  
Length Polymorphisms ◽  
Grade Ii ◽  
Fine Print

✓ Models describing progression in the genetic derangement of glial tumors have shown loss of chromosome 10 to occur most frequently in high-grade lesions, suggesting that identification of this loss may be prognostically significant. Fluorescence in situ hybridization (FISH) analysis may be a valuable adjunct to histological grading if it can accurately detect this loss. In this paper the authors correlate results obtained from FISH, cytogenetic, molecular genetic, and flow cytometric analyses of a series of 39 brain specimens, including seven normal, two gliotic, and 30 neoplastic (one Grade II, one Grade III, and 28 Grade IV astrocytoma) specimens. Contiguous section of freshly resected surgical tissue were submitted for tissue culturing (karyotype) and touch preparation (FISH), snap-frozen (molecular genetic), or paraffin-embedded (histology and flow cytometry). Centromere-specific probes for chromosomes 10 and 12 were used for FISH analysis, and 19 restriction fragment length polymorphisms (two p-arm and 17 q-arm) and four microsatellite sequence polymorphisms (three p-arm and one q-arm) were used for molecular genetic analysis of chromosome 10. Findings showed FISH and loss of heterozygosity (LOH) analyses to be concordant in 33 of 38 specimens (sensitivity 94%, specificity 81%), with one specimen indeterminate on LOH analysis. Both FISH and LOH analyses were more sensitive at detecting chromosome 10 loss than conventional cytogenetic (karyotype) analysis. The authors conclude that FISH is a sensitive test for detecting chromosome 10 loss and ploidy in astrocytic tumors.

Immunophenotyping and cytogenetic profile of children with acute lymphoblastic leukemia: A study from a tertiary care center from Kashmir.

JMS SKIMS ◽  
2020 ◽  
Vol 23 (2) ◽  
Author(s):  
Faisal R Guru ◽  
Nisar Ahmad Syed ◽  
Shumail Bashir ◽  
Sanudev Sadanandan Vp ◽  
Hashim Kunju Ismail ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Cytogenetic Study ◽  
Lymphoblastic Leukemia ◽  
Tertiary Care ◽  
Medical Science ◽  
Fish Analysis ◽  
Jammu And Kashmir ◽  
Mll Gene ◽  
Cytogenetic Profile ◽  
Study Participants

Background The complete cytogenetic and immunophenotyping data in children suffering from acute lymphoblastic leukemia (ALL) in Jammu and Kashmir is scarce. To bridge this knowledge gap the present study proposes to evaluate the immunophenotype and cytogenetic profile of pediatric ALL patients treated in our hospital. Material and methods This hospital-based observational study was conducted on 180 pediatric patients aged between 1  to 18 years who had visited the Paediatric unit of the  Department of Medical Oncology at Sher-I -Kashmir Institute of Medical Science, Srinagar ,Jammu and Kashmir between the January 2015 to December 2019. Result Among the study participants, 57.8% were male and 42.2% were female with a mean age of 9.24 years and median of 8 Years. Among the participants, 57.2% were below 10 years of age and 42.8% were above 10years of age. CNS disease was reported in 7.8%  of the study participants.  63.3% patients  had a TLC count of less than 20000. Immunophenotyping data revealed pre-B ALL in 77.8% of children. Cytogenetic study was conducted on 153 patients among them 74.4% had a normal karyotype, 7.2% s had hyperdiploidy and 3.3% had hypodiploidy. The FISH analysis showed that 23.3% of study participants were positive for the TEL-AML study, 11.1% were positive for BCR-ABL analysis and 4.4% of participants were positive for MLL gene analysis. The overall survival in the study population was 78.9% among the study participants. Only the MLL gene rearrangement analysis showed a statistically significant correlation with the survival analysis (P<0.5). Conclusion In summary, the present study reported the complete cytogenetic and immunophenotyping profile of the children suffering from acute lymphoblastic leukemia in Jammu and Kashmir.

INDIREKTE PAPIERCHROMATOGRAPHISCHE METHODE ZUR BESTIMMUNG DER HARNOESTROGENE

1961 ◽  
Vol 38 (4) ◽  
pp. 545-562 ◽  
Author(s):  
L. Kecskés ◽  
F. Mutschler ◽  
I. Glós ◽  
E. Thán ◽  
I. Farkas ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Granulosa Cell ◽  
Iron Content ◽  
List Type ◽  
Granulosa Cell Tumour ◽  
Hydrolysis Of ◽  
Phenol Fraction ◽  
Qualitative Determination

ABSTRACT 1. An indirect paperchromatographic method is described for separating urinary oestrogens; this consists of the following steps: acidic hydrolysis, extraction with ether, dissociation of phenol-fractions with partition between the solvents. Previous purification of phenol fraction with the aid of paperchromatography. The elution of oestrogen containing fractions is followed by acetylation. Oestrogen acetate is isolated by re-chromatography. The chromatogram was developed after hydrolysis of the oestrogens 'in situ' on the paper. The quantity of oestrogens was determined indirectly, by means of an iron-reaction, after the elution of the iron content of the oestrogen spot, which was developed by the Jellinek-reaction. 2. The method described above is satisfactory for determining urinary oestrogen, 17β-oestradiol and oestriol, but could include 16-epioestriol and other oestrogenic metabolites. 3. The sensitivity of the method is 1.3–1.6 μg/24 hours. 4. The quantitative and qualitative determination of urinary oestrogens with the above mentioned method was performed in 50 pregnant and 9 non pregnant women, and also in 2 patients with granulosa cell tumour.

Single Crystal Growth of High-Pressure Phases of Ice and Salt Hydrate Far Below the Original Melting Point by Mixing Alcohol: Crystal Structure Determination of Magnesium Chloride Heptahydrate

2020 ◽  
Author(s):  
Keishiro Yamashita ◽  
Kazuki Komatsu ◽  
Hiroyuki Kagi
Keyword(s):  
Crystal Structure ◽  
High Pressure ◽  
Crystal Growth ◽  
Single Crystal ◽  
Room Temperature ◽  
Growth Technique ◽  
Salt Hydrate ◽  
X Ray

An crystal-growth technique for single crystal x-ray structure analysis of high-pressure forms of hydrogen-bonded crystals is proposed. We used alcohol mixture (methanol: ethanol = 4:1 in volumetric ratio), which is a widely used pressure transmitting medium, inhibiting the nucleation and growth of unwanted crystals. In this paper, two kinds of single crystals which have not been obtained using a conventional experimental technique were obtained using this technique: ice VI at 1.99 GPa and MgCl<sub>2</sub>·7H<sub>2</sub>O at 2.50 GPa at room temperature. Here we first report the crystal structure of MgCl2·7H2O. This technique simultaneously meets the requirement of hydrostaticity for high-pressure experiments and has feasibility for further in-situ measurements.

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