oalib
Search Results: 1 - 10 of 100 matches for " "
All listed articles are free for downloading (OA Articles)
Page 1 /100
Display every page Item
Interphase cytogenetics using fluorescence in situ hybridization: an overview of its application to diffuse and solid tissue
Brazilian Journal of Genetics , 1997, DOI: 10.1590/S0100-84551997000100018
Abstract: interphase cytogenetics, utilizing fluorescence in situ hybridization (fish) techniques, has been successfully applied to diffuse and solid tissue specimens. most studies have been performed on isolated cells, such as blood or bone marrow cells; a few have been performed on cells from body fluids, such as amniotic fluid, urine, sperm, and sputum. mechanically or chemically disaggregated cells from solid tissues have also been used as single cell suspensions for fish. additionally, intact organized tissue samples represented by touch preparations or thin tissue sections have been used, especially in cancer studies. advantages and pitfalls of application of fish methodology to each type of specimen and some significant biological findings achieved are illustrated in this overview.
Chromosomal imbalances detected in primary bone tumors by comparative genomic hybridization and interphase fluorescence in situ hybridization
Baruffi, Marcelo Razera;Engel, Edgard Edward;Squire, Jeremy Andrew;Tone, Luis Gonzaga;Rogatto, Silvia Regina;
Genetics and Molecular Biology , 2003, DOI: 10.1590/S1415-47572003000200001
Abstract: we applied a combination of comparative genomic hybridization (cgh) and fluorescence in situ hybridization (fish), to characterize the genetic aberrations in three osteosarcomas (os) and one ewing's sarcoma. cgh identified recurrent chromosomal losses at 10p14-pter and gains at 8q22.3-24.1 in os. interphase fish allowed to confirm 8q gain in two cases. a high amplification level of 11q12-qter was detected in one os. the ewing's sarcoma showed gain at 1p32-36.1 as the sole chromosome alteration. these studies demonstrate the value of molecular cytogenetic methods in the characterization of recurrent genomic alterations in bone tumor tissue.
Chromosomal imbalances detected in primary bone tumors by comparative genomic hybridization and interphase fluorescence in situ hybridization
Baruffi Marcelo Razera,Engel Edgard Edward,Squire Jeremy Andrew,Tone Luis Gonzaga
Genetics and Molecular Biology , 2003,
Abstract: We applied a combination of comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), to characterize the genetic aberrations in three osteosarcomas (OS) and one Ewing's sarcoma. CGH identified recurrent chromosomal losses at 10p14-pter and gains at 8q22.3-24.1 in OS. Interphase FISH allowed to confirm 8q gain in two cases. A high amplification level of 11q12-qter was detected in one OS. The Ewing's sarcoma showed gain at 1p32-36.1 as the sole chromosome alteration. These studies demonstrate the value of molecular cytogenetic methods in the characterization of recurrent genomic alterations in bone tumor tissue.
染色体核型分析和荧光原位杂交技术用于产前诊断的价值
Prenatal diagnostic value of chromosomal karyotype analysis and fluorescence in situ hybridization
 [PDF]

吴?h丽,赵晖,赵玲,周桃珍,贾莉婷
- , 2015,
Abstract: 摘要目的:应用染色体核型分析和荧光原位杂交(FISH)技术对2 708例孕妇的羊水细胞进行检测,探讨两种方法用于产前诊断的临床意义。方法:对2 708例有产前诊断指征的孕妇行羊膜腔穿刺术,获得羊水细胞分别进行细胞培养、染色体核型分析及FISH检测(FISH选取13、18、21、X、Y五条染色体特异性探针杂交)。结果:2 708例羊水细胞染色体核型分析培养失败3例,成功率99.9%。2 705例培养成功样本中检出染色体多态39例(1.4%);检出染色体异常核型105例(3.9%),其中染色体非整倍体异常82例,染色体结构异常23例。FISH检测成功率100%。共检出13、18、21、X、Y染色体非整倍体异常82例,性染色体嵌合2例,与染色体核型分析结果相符,1例嵌合型20号染色体三体未能检出,染色体结构异常及多态性均未检出。结论:染色体核型分析可检出全部染色体数目及结构异常,但对孕周要求较为严格、需要样本量大、诊断周期长、易培养失败、分辨率有限;FISH技术对孕周无严格要求,需要样本量小,可直接对未培养羊水细胞进行检测,快速、简便,但目前仅能检出有限的几条染色体数目异常,尚不能检出染色体平衡性结构改变如平衡易位、倒位、染色体多态等。
AbstractAim: To evaluate the prenatal diagnosis value of chromosomal karyotyping analysis and fluorescence in situ hybridization(FISH) performed to detect the amniotic fluid cells from 2 708 cases. Methods: Amniocentesis, amniotic fluid cell culture, chromosomal karyotype analysis and FISH detection were carried out in 2 708 cases of pregnancy women with prenatal diagnosis indication. Five chromosome??specific probes(chromosome 13, 18, 21, X, Y) were used in interphase FISH. Results: The success rate of chromosomal karyotype analysis was 99.9%(2 705/2 708) and 3 failed in amniotic cell culture. Among the 2 705 cases,39 cases(1.4%) of chromosomal polymorphism were identified,and 105 cases(3.9%) of chromosomal abnormalities were identified. Among all of the disorders, we found 82 cases of chromosomal aneuploid abnormalities and 23 cases of structural abnormalities.The success rate of FISH was 100%. A total of 82 cases of chromosome abnormalities were detected by FISH, which were consistent with chromosomal karyotype analysis,while chromosomal polymorphism and structural rearrangement were failed to be detected. Conclusion: Chromosomal karyotype analysis could detect all kinds of chromosomal abnormalities including not only aneuploid but also structural rearrangement, but it is limited by strict gestational week requirements and requires more sample capacity, meanwhile cell culture and karyotype analysis would lead to a long interval before diagnosis and there may be failures in cell culture, and it is limited in resolution moreover. FISH technology could be performed without strict gestational week requirements, requires small quantity of samples, uncultured amniotic fluid cells could be detected directly. It is a fast and convenient detection technology but limited by only several chromosomal aneuploid abnormalities could be detected at present, and chromosomal structural abnormalities such as balanced translocations, inversions and chromosomal polymorphism could not be detected
Application of Interphase Fluorescence in situ Hybridization to the Diagnosis of X Chromosomal Count Abnormality in Ovarian Carcinoma Cell
用间期荧光原位杂交检测卵巢癌细胞中X染色体数目的异常The Application of Interphase Fluorescence in situ Hybridization to the Diagnosis of X Chromosomal Count Abnormality in Ovarian Carcinoma Cell

LIU Yong-zhang,SHUAI Ci-xia,DONG Jie-Ying,
刘永章
,帅茨霞,董杰影

遗传 , 2005,
Abstract: To study the technique of fluorescence in situ hybridization (FISH) and its application in the diagnosis of sex chromosomal count abnormality in ovarian carcinoma cell, biotin labeled alpha satellite X chromosome DNA(pBamX7) probe was hybridized with pre-treated slides of ovarian carcinoma cell interphase nucleus in 18 cases of ovarian carcinoma specimens. The slides were treated with Avidin-FITC and Anti-avidin, amplified with an additional layer and counter-stained with PI in antifade solution. The hybridization signals as well as interphase nucleus settings were observed with WIB filters under fluorescence microscope Olympus AX-70, and the number of interphase nucleus in the ovarian carcinoma cell was counted. It was observed under the microscope that the biotin labeled pBamX7 probe showed green hybridization signals, and cytoplasm counter-stained with PI showed reddish orange. Increased chromosome X copy number was observed in 11/18(61%) ovarian carcinoma specimens, while the rest 7 (39%) had no increase in chromosome X copy number. Gain of X chromosome had a certain incidence in ovarian cancers, which played a role in the recurrence and development of ovarian cancers. Its significance needs further investigation.
Detection of human aneuploidies in prenatal and postnatal diagnosis using molecular cytogenetics  [cached]
Kucheria Kiran,Jobanputra Vaidehi,Talwar Rashmi,Ahmed M
Indian Journal of Human Genetics , 2002,
Abstract: Chromosomal aneuploidies especially trisomies 13, 18, 21, monosomy X and 47, XXY account for up to 95% of live born cytogenetic abnormalities. The diagnosis of aneuploidies usually done by conventional cytogenetic analysis (CCA) is associated with technical difficulties and requires about 1-3 weeks for providing a result, especially in prenatal diagnosis. In the present study, Fluorescence In Situ Hybridization (FISH) was used on interphase cells for rapid prenatal and postnatal detection of aneuploidies. The frequent indications of high pregnancies included for prenatal diagnosis were previous child with chromosomal abnormalities, abnormal ultrasound scan and advanced maternal age (> 35 years). Interphase FISH was done using probes specific for chromosomes 13, 18, 21, X and Y on uncultured chorionic villi and amniotic fluid samples. All samples were analyzed subsequently using conventional cytogenetics. The analysis of aneuploidies for chromosomes 13, 15, 16, 18, 21, 22, X and Y using FISH was extended to abortuses from spontaneous abortion cases. In cases where cytogenetics was not informative, a diagnosis could be made using interphase FISH. For postnatal diagnosis, interphase FISH was done to confirm low-level mosaicism in patients with primary amenorrhea, suspected cases of Klinefelter syndrome, and mental retardation using probes specific for various autosomes, X and Y chromosomes. FISH was also done using probe specific for the sex-determining region (SRY) on the Y chromosome in cases with ambiguous genitalia. The SRY region could be identified in cases that lacked the Y chromosome on conventional cytogenetic analysis thereby emphasizing on the high resolution of FISH technique in detecting sub-microscopic rearrangements. To conclude, interphase FISH decreases the time interval between sampling and diagnosis. This is of tremendous value in prenatal diagnosis of urgent high-risk pregnancies, management of ambiguous genitalia and low-level mosaicism where result can be obtained within 24 hours.
Clinical application of fluorescence in situ hybridization for prenatal diagnosis  [cached]
Shu-fang JIANG,Zhi-ying GAO,Yan-ping LU,Yong-mei ZHANG
Medical Journal of Chinese People's Liberation Army , 2012,
Abstract: Objective To establish and optimize the procedures of fluorescence in situ hybridization(FISH), and evaluate its clinical value in rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. Methods Amniotic fluid or fetal blood was sampled by routine invasive procedures. After the amniotic fluid cells or fetal blood cells were separated and sequentially processed with hypotonic solution, fixation solution, smear and high temperature, they were hybridized in situ with two panels of specific fluorescence probes to detect numerical abnormality of chromosomes 21, 18, 13, X, Y. All the samples were also cultured and analyzed for their karyotype by conventional methods. Results When it was used as a diagnostic criterion of chromosomal number that the fluorescence signals were observed in ≥90% cells, GLP 13/GLP 21 probe panel showed 2 green/2 red fluorescence signals and CSP18/CSP X/CSP Y probe panel showed 2 blue/2 yellow (female) or 2 blue/1 yellow/1 red fluorescence signals (male) under normal condition. The test reports of all 196 cases were sent out in 72-96 hours, and 7 cases of Down syndrome, 2 cases of trisomy 18 and 1 case of sex chromosomal numerical abnormality were detected, which were accordant with karyotype analysis results reported one month later. Conclusions FISH has potential for clinical application, and is applicable to rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. The rapid FISH, together with conventional karyotyping, offer a valuable means for prenatal diagnosis of fetal aneuploidies.
The Application of Dual-color Fluorescence in situ Hybridization to the Diagnosis of Klinefelter Syndrome
应用双色荧光原位杂交技术检测克氏综合征 The Application of Dual-color Fluorescence in situ Hybridization to the Diagnosis of Klinefelter Syndrome

Yong-Zhang Liu,Xue-Chang Wu,Long-Jin Jin,Jie-Ying Dong,
刘永章
,吴雪昌,金龙金,董杰影LIU Yong-Zhang,WU Xue-Chang,JIN Long-Jin,DONG Jie-Ying

遗传 , 2003,
Abstract: The objective of the work is to study the technique of dual-color fluorescence in situ hybridization(D-FISH) and its application value in the diagnosis of sex chromosomal count abnormality Klinefelter syndrome and establish an experimental approach to metaphase chromosome and interphase nucleus FISH technique. Biotin labeled alpha satellite X-chromosome DNA(pBamX7) probe and Digoxigenin labeled Y-chromosome long arm terminal repetitive sequence (pY3.4) probe were hybridized with pre-treated slides of peripheral blood chromosome and interphase nucleus in 19 cases of Klinefelter syndrome specimens. After being washed,the slides were treated with Avidin-FITC,Rhodamine-FITC and Anti-avidin,amplified with an additional layer and counter-stained with DAPI in an antifade solution. The hybridization signals,chromosomal or interphase nucleus settings were observed respectively with WIB, WIG and WU filters under fluorescence microscope Olympus AX-70,and the number of metaphase chromosome and interphase nucleus in the peripheral blood was counted. It was observed under the microscope that the Biotin labeled pBamX7 probe showed 2 green hybridization signals and that the Digoxigenin labeled pY3.4 probe showed 1 red hybridization signal. Chromosome or interphase nucleus counter-stained with DAPI showed blue. The average signal rate of chromosome and interphase nucleus hybridization was 95.89% and 95% respectively,significantly higher than the normal control (2.75%).Karyotype 47,XXY was confirmed,which agrees with the chromosomal findings. One case showed mosaic nuclei. XXY chromosome hybridization signal rate was 92% and XY hybridization signal rate was 6.7%, higher than the normal control rate of 4.17%. FISH is a valuable technique in diagnosing sex chromosomal count abnormality Klinefelter syndrome with the merits of fast speed, high sensitivity, strong signal,low background and multiple color. Therefore, FISH technique can find wide application and potential in prenatal diagnosis.
Chromosome-Specific DNA Repeats: Rapid Identification in Silico and Validation Using Fluorescence in Situ Hybridization  [PDF]
Joanne H. Hsu,Hui Zeng,Kalistyn H. Lemke,Aris A. Polyzos,Jingly F. Weier,Mei Wang,Anna R. Lawin-O'Brien,Heinz-Ulrich G. Weier,Benjamin O'Brien
International Journal of Molecular Sciences , 2013, DOI: 10.3390/ijms14010057
Abstract: Chromosome enumeration in interphase and metaphase cells using fluorescence in situ hybridization (FISH) is an established procedure for the rapid and accurate cytogenetic analysis of cell nuclei and polar bodies, the unambiguous gender determination, as well as the definition of tumor-specific signatures. Present bottlenecks in the procedure are a limited number of commercial, non-isotopically labeled probes that can be combined in multiplex FISH assays and the relatively high price and effort to develop additional probes. We describe a streamlined approach for rapid probe definition, synthesis and validation, which is based on the analysis of publicly available DNA sequence information, also known as “database mining”. Examples of probe preparation for the human gonosomes and chromosome 16 as a selected autosome outline the probe selection strategy, define a timeline for expedited probe production and compare this novel selection strategy to more conventional probe cloning protocols.
Applications of Fluorescence in Situ Hybridization (FISH) for Detecting Genetic Changes in Hematological Malignancies  [PDF]
Deniz Ta?temir, Osman Demirhan, Emel Gürkan, Erdal Tun?, Nihal ?nand?kl?o?lu
Journal of Cancer Therapy (JCT) , 2011, DOI: 10.4236/jct.2011.22014
Abstract: Fluorescence in situ hybridization (FISH) has become an important tool both for defining initial chromosomal abnormalities within a disease process, and for monitoring response to therapy as well as minimal residual disease. We report the results of interphase FISH (iFISH) analysis of 92 patients. We have used five different FISH probes to detect common cytogenetic rearrangements associated with hematological malignancies. A total of 83 patients were screened for BCR/ABL gene rearrangements. Displayed iFISH patterns of BCR/ABL gene rearrangements in 37.3% of patients (31/83) ranged between 10% to 98%. In addition, while 3 patients and one patient with AML showed t(15; 17) (12.5%) and inv(16; 16) (8.3%) respectively, t(8; 21) was not found. Furthermore, secondary chromosomal aberrations (6.5% of all cases) were clearly non random in the present study. The diagnosis of BCR/ABL gene rearrangements are likely become an important tool for the monitoring of therapies in patients with CML. Atypical patterns also may have clinical prognostic implications. Further studies in larger groups of patients are needed in order to elucidate the role of AML1/ETO, PML/RARA, CBFB and p53, and to identify the specific chromosomal regions and interacting genes involved in this process.
Page 1 /100
Display every page Item


Home
Copyright © 2008-2017 Open Access Library. All rights reserved.