chromosomal-alterations

Download Book Chromosomal Alterations in PDF format. You can Read Online Chromosomal Alterations here in PDF, EPUB, Mobi or Docx formats.

Chromosomal Alterations

Author : Günter Obe
ISBN : 9783642788871
Genre : Science
File Size : 82. 17 MB
Format : PDF
Download : 160
Read : 474

Get This Book


Due to sensitive molecular biological techniques, our understanding of chromosomal aberrations is steadily increasing. Provided here is a review of basic and applied aspects of the field. Chromosome structure, induction of DNA lesions by different clastogenic agents and their repair, induction of aberrations by agents which affect specific sequences in the DNA, and factors affecting induction and yield of chromosomal aberrations are covered. Further, topics such as automation of aberration scoring, problems associated with using chromosomal aberrations and micronuclei in population monitoring and the importance of chromosomal aberration assays in mutagenicity testing of chemicals are included.

Chromosomal Alterations

Author : Günter Obe
ISBN : 9783540714149
Genre : Science
File Size : 63. 25 MB
Format : PDF, Docs
Download : 133
Read : 1293

Get This Book


The book helps the reader to better understand cytogenetics and the intricacies of the methodology. The different methods of fluorescence in situ hybridization are discussed and the results achieved are presented. The book provides a comprehensive review of basic and applied aspects of cytogenetics and thus is of intense interest to all those interested in chromosomes and their alterations by different types of mutagens, including chemical mutagens and ionizing and nonionizing radiation, with special reference to electromagnetic fields.

Chromosomal Abnormalities

Author : Tulay Askin Celik
ISBN : 9781789859799
Genre : Medical
File Size : 82. 29 MB
Format : PDF, ePub, Mobi
Download : 851
Read : 180

Get This Book


Chromosomes are vital components of genetic material, and, as such, distruption or changes to the structure of chromosomes can result in different health problems and deficits. This book explains chromosomal abnomalities and their effects on living organisms, including humans and plants. Classical and molecular cytogenetics techniques have a considerable number of potential applications, especially in clinical trials and biomedical diagnosis, making them a strong and insightful complement to other molecular and genomic approaches. Chapters cover topics including Down syndrome, fetal ultrasounds, acute myeloid leukemia, and Phelan-McDermid syndrome, among others.

Cytogenetic Abnormalities

Author : Susan Mahler Zneimer
ISBN : 9781118912492
Genre : Science
File Size : 58. 34 MB
Format : PDF, Kindle
Download : 126
Read : 404

Get This Book


Cytogenetics is the study of the structure and function of chromosomes in relation to phenotypic expression.Chromosomal abnormalities underlie the development of a wide variety of diseases and disorders ranging from Down syndrome to cancer, and are of widespread interest in both basic and clinical research. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting is a practical guide that describes cytogenetic abnormalities, their clinical implications and how best to report and communicate laboratory findings in research and clinical settings. The text first examines chromosomal, FISH, and microarray-based analyses in constitutional disorders. Using these same methodologies, the book's focus shifts to acquired abnormalities in cancers. Both sections provide illustrative examples of cytogenetic abnormalities and how to communicate these findings in standardized laboratory reports. Providing both a wealth of cytogenetic information, as well as practical guidance on how best to communicate findings to fellow research and medical professionals, Cytogenetic Abnormalities will be an essential resource for cytogeneticists, laboratory personnel, clinicians, research scientists, and students in the field. A guide to interpreting and reporting cytogenetic laboratory results involved in constitutional disorders and cancers Guides the reader on implementing the International System for Human Cytogenetic Nomenclature in written reports Provides information to allow scientists and medical professionals to fully understand and communicate cytogenetic abnormalities Describes a wide array of cytogenetic abnormalities observed in the laboratory Divided into user-friendly sections devoted to methodologies and implications of specific diseases

Crispr Cas9 Facilitated Chromosome Engineering To Model Human Chromosomal Alterations

Author : Zhuo Xing
ISBN : OCLC:1154161066
Genre : Medicine
File Size : 62. 84 MB
Format : PDF, ePub, Docs
Download : 867
Read : 569

Get This Book


Rodents, particularly the mouse, have been used extensively for genetic modeling and analysis of human chromosomal alterations based on the syntenic conservations between the human and rodent genomes. In this article, we will discuss the emergence of CRISPR/Cas9-facilitated chromosome engineering techniques, which may open up a new avenue to study human diseases associated with chromosomal abnormalities, such as Down syndrome and cancer.

Chromosomal Translocations And Genome Rearrangements In Cancer

Author : Janet D. Rowley
ISBN : 9783319199832
Genre : Medical
File Size : 25. 84 MB
Format : PDF, Docs
Download : 355
Read : 1047

Get This Book


This volume collates world experts’ insights into the molecular biology of cancer chromosomes, their abnormalities and the subsequent cellular consequences. Exploring themes involving oncogenes, such as by chromosomal translocations, other genome rearrangements and somatic mutations, this book is a review of the field of cancer genetics that presages a new era, as whole genome sequencing becomes more accessible. The work begins with a look at historical themes, such as the analysis of metaphase chromosomes using microscopy and staining techniques, advances in which provided our first broad glimpse into the genetic anatomy of a malignant cell. Readers will learn about the application of DNA molecular cloning techniques in the 1980s, that led to the identification of the genes involved in the Philadelphia and Burkitt's lymphoma chromosomal translocations, solidifying the role of oncogenes and tumour suppressor genes in cancer aetiology via chromosomal alterations and which launched a field in cancer genetics. Subsequent chapters bring the reader up to date by reviewing recent developments in the field, with dedicated sections on leukaemia/lymphoma, sarcomas and epithelial tumours. Contributions feature numerous colour tables and illustrations and this volume will provide a basis for understanding cancer chromosomes for many years to come.

Cancer Cytogenetics

Author : Sverre Heim
ISBN : 9781118795514
Genre : Medical
File Size : 81. 91 MB
Format : PDF
Download : 335
Read : 787

Get This Book


The first three editions of this acclaimed book presented a much-needed conceptual synthesis of this rapidly moving field. Now, Cancer Cytogenetics, Fourth Edition, offers a comprehensive, expanded, and up-to-date review of recent dramatic advances in this area, incorporating a vast amount of new data from the latest basic and clinical investigations. New contributors reflecting broader international authorship and even greater expertise Greater emphasis throughout on the clinical importance and application of information about cytogenetic and molecular aberrations Includes a complete coverage of chromosome aberrations in cancer based on an assessment of the 60,000 neoplasms cytogenetically investigated to date Now produced in full color for enhanced clarity Covers how molecular genetic data (PCR-based and sequencing information) are collated with the cytogenetic data where pertinent Discusses how molecular cytogenetic data (based on studies using FISH, CGH, SNP, etc) are fused with karyotyping data to enable an as comprehensive understanding of cancer cytogenetics as is currently possible

Chromosomal Abnormalities

Author : Marcelo Larramendy
ISBN : 9789535134732
Genre : Medical
File Size : 39. 85 MB
Format : PDF
Download : 253
Read : 355

Get This Book


This edited book, Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability, contains a series of chapters highlighting several aspects related to the generation of chromosomal abnormalities in genetic material. We are extremely grateful to the authors who had contributed with valuable information about the role of genomic instability in pathological disorders as well as in the evolution process.

Genetic Alterations In Familial Gliomas

Author : Atul Patel
ISBN : UCAL:X51653
Genre : Glioma
File Size : 61. 83 MB
Format : PDF, Docs
Download : 918
Read : 353

Get This Book



Chromosomal Variation In Man

Author : Digamber S. Borgaonkar
ISBN : UOM:39015040042122
Genre : Science
File Size : 60. 55 MB
Format : PDF, ePub, Mobi
Download : 715
Read : 380

Get This Book


CHROMOSOMAL VARIATION IN MAN A Catalog of Chromosomal Variants and Anomalies Eighth Edition Digamber S. Borgaonkar, PhD, Cytogenetics Laboratory Department of Pathology and Laboratory Medicine From the reviews of previous editions: "This tried and trusted friend remains an invaluable compilation of published work in the field of human chromosome abnormalities, providing to all who work in this area an unequaled source of information." —The Genetical Society of Great Britain. "An unrivaled reference source." —Journal of Medical Genetics. "Invaluable to anyone working in clinical cytogenetics whether in a research environment or busy diagnostic laboratory." —British Medical Journal. "The definitive and authoritative reference book of chromosome variation in man . . . [a] superb collection . . . no cytogeneticist can be without a Borgaonkar[!]." —Genetical Research. "An extensive, rich catalog of human chromosome variants and anomalies." —Canadian Genetics Society Bulletin. "All who work with chromosomes will be very much in Dr. Borgaonkar's debt." —Biology and Society. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies, Eighth Edition provides an unparalleled means of reviewing the world literature on all common and rare chromosomal alterations and abnormalities. Organized for easy access, coverage is divided into the three main subject areas: variations and anomalies, numerical anomalies, and chromosomal breakage syndromes. The Catalog documents information on the availability of mutant cell lines and presents chromosome alterations with a list that cross-references band numbers. This updated and expanded edition contains nearly 19,000 entries—3,000 more than the previous edition—including new or expanded coverage of structural anomalies, new banding techniques, spectral karyotyping of chromosomes, FISH, UPD, and PRINS. CHROMOSOMAL VARIATION IN MAN On-Line. An online version of Chromosomal Variation in Man is also available to the public at www.wiley.com/borgaonkar. Chromosomal Variation in Man, Eighth Edition and Chromosomal Variation in Man On-Line are indispensable resources for human and medical geneticists and cytogeneticists, cytogenetic laboratory technicians, and others interested in human chromosome abnormalities.

Chromosome Abnormalities And Genetic Counseling

Author : R. J. McKinlay Gardner
ISBN : 9780199725243
Genre : Medical
File Size : 77. 58 MB
Format : PDF, Docs
Download : 725
Read : 583

Get This Book


Chromosomal abnormalities can cause disability in children, and reproductive difficulty in parents. Many parents and couples seek genetic counseling in order to learn why they, or a relative, may have had a child with a particular collection of medical problems and/or intellectual disability. There may have been a history of multiple miscarriage, or infertility. They may want to know the outlook for a pregnancy, and what the risks might be. These and other questions concerning chromosome abnormalities are addressed in this standard text, which will be of interest to genetic counselors, medical geneticists, pediatricians and obstetricians, infertility specialists, and laboratory cytogeneticists. This third edition has been thorougly updated, and is richly illustrated and fully referenced. New chapters have been written on preimplantation diagnosis and on reproductive risks due to environmental agents. The practical applications of recent advances in molecular cytogentics are noted. The book will give counselors the information that will enable them to help concerned parents accommodate to their particular "chromosomal situation", and to determine what may be, for them, the best course of action.

A Cytogenetic Study Of Some Chromosomal Alterations In A Monosomic Type Of Nicotiana Tabacum

Author : Abdel-Halim Ali El-Tobgy
ISBN : OCLC:15718015
Genre : Chromosomes
File Size : 24. 17 MB
Format : PDF, Docs
Download : 747
Read : 1329

Get This Book



Chromosome 12 Aberrations In Human Solid Tumors

Author : Jörn Bullerdiek
ISBN : 9783662062555
Genre : Medical
File Size : 57. 24 MB
Format : PDF, Kindle
Download : 788
Read : 387

Get This Book


Researchers involved in the cytogenetics and molecular genetics of human tumors will welcome this comprehensive overview of the type of aberrations that chromosome 12 presents in human solid tumors. The authors study the implications for a cytogenetic subtyping of the tumors involved and strategies for identifying the molecular changes which underlie the karyotypic alterations. The aberrations of chromosome 12 which the book deals with are very frequent chromosomal alterations in human tumors occuring in frequent benign mesenchymal tumors, such as uterine leiomyomas and lipomas, and in tumors of epithelial origin, such as pleomorphic adenomas of the salivary glands.

Abnormal Karyotypes

Author : Sana Nimer Abu Shihab
ISBN : 9781491806289
Genre : Medical
File Size : 66. 49 MB
Format : PDF, ePub
Download : 155
Read : 871

Get This Book


In my first book (Your Easy Way To Chromosomes), the main topic was about the human chromosomes, their structures, abnormalities, syndromes, and chromosome analysis. In this book I focused on abnormal karyotypes and how chromosomal abnormalities happen. A karyotype is a picture of a person's chromosomes from body cells (blood, hair, or any other tissue), photographing them through a microscope and arranging them in pairs, ordered by size and position of centromere for chromosomes of the same size. Karyotype test (alternative names are Chromosome Analysis, Chromosomal Analysis) plays a role in: diagnosis genetic diseases which are related to chromosomal abnormalities, diagnosis some birth defects, and provides clinical utility in the diagnosis and treatment of hematologic malignancies. On the other hand some genetic abnormalities cannot be detected by karyotype analysis such as microdeletions. Karyotype helps clinical cytogeneticist to identify abnormalities by: Counting the number of chromosomes and looking for extra chromosome such as in trisomy 21 or missing chromosome in a karyotype such as in Turner syndrome. Looking for changes in chromosome structure such as chromosomal deletions, duplications, translocations, insertions, inversions and other chromosomal abnormalities. Writing a book related to your field shows your passion and commitment to your job. Sana Nimer [email protected] [email protected]

Chromosome Abnormalities And Genetic Counseling

Author : R. J. McKinlay Gardner
ISBN : 9780199329007
Genre : Medical
File Size : 35. 62 MB
Format : PDF, ePub, Mobi
Download : 322
Read : 766

Get This Book


Preceded by Chromosome abnormalities and genetic counseling / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer. c2012.

Cytogenetic And Molecular Alterations In Immortalization Of Normal Esophageal Epithelial Cells

Author : Hao Zhang
ISBN : 1361397039
Genre :
File Size : 70. 61 MB
Format : PDF, ePub, Docs
Download : 763
Read : 533

Get This Book


This dissertation, "Cytogenetic and Molecular Alterations in Immortalization of Normal Esophageal Epithelial Cells" by Hao, Zhang, 張浩, was obtained from The University of Hong Kong (Pokfulam, Hong Kong) and is being sold pursuant to Creative Commons: Attribution 3.0 Hong Kong License. The content of this dissertation has not been altered in any way. We have altered the formatting in order to facilitate the ease of printing and reading of the dissertation. All rights not granted by the above license are retained by the author. Abstract: Abstract of thesis entitled Cytogenetic and Molecular Alterations in Immortalization of Normal Esophageal Epithelial Cells Submitted by Zhang Hao for the degree of Master of Philosophy at The University of Hong Kong in October, 2005 Esophageal carcinoma is common worldwide especially in China. The high-risk human papillomavirus type 16 E6/E7 (HPV16E6/E7) infection might play an important pathogenetic role in esophageal squamous cell carcinoma (SCC) in the Chinese population, whereas progressive up-regulation of telomerase is associated with the development of adenocarcinoma common in Western countries. Multiple genetic alterations have been identified in esophageal carcinoma, but the early genetic events required for pathogenesis of cancer remain unknown. In this study, esophageal epithelial cells were immortalized by the transfection of HPV16E6/E7 or human telomerase reverse transcriptase (hTERT), to define the cytogenetic and molecular alterations necessary for cell immortalization and early stage of carcinogenesis, and to compare these alterations with those of esophageal cancer cells. Two HPV16E6/E7 transfected (NE083/E6E7 and NE108/E6E7) and one hTERT transfected (NE083/hTERT) esophageal cell lines were immortalized successfully. During crisis leading to immortalization, the frequency of negative telomere termini and chromosomal instability events, including mitotically unstable chromosomes and anaphase bridges, were high in NE108/E6E7 cells, corresponding with the predominance of nonclonal chromosomal changes in this stage, suggesting that telomere dysfunction and the consequent chromosomal instability contributed to the formation of chromosomal aberrations essential for cell immortalization. Analysis of chromosomal abnormalities in immortalized cells (including two previously immortalized NE3/E6E7 and NECA6/E6E7 esophageal cells) showed that gain of chromosome 20q material was consistently observed in HPVE6/E7 immortalized cells, whereas gain of chromosome 5q material was preferentially found in hTERT immortalized cells. Chromosomal rearrangements in some immortalized NE cells, such as deletion of 3p and unbalanced structural rearrangements involving centromeric regions of chromosome 8, 13, 14, and 21 were similar to that of esophageal cancer. These alterations might play important roles in cellular immortalization and the early stages of carcinogenesis. HPVE6/E7 immortalized esophageal cells showed suppression of RB and p53 INK4A WAF1 and over-expression of p16 and p21 . They failed to up-regulate p53 in response to mitomycin C. On the other hand, hTERT immortalized esophageal cells INK4A WAF1 showed unaffected RB and p53 and down-regulated p16 and p21 . Treatment with mitomycin C resulted in the up-regulation of p53. Interestingly, the expression of Aurora-A was up-regulated in both HPVE6/E7 and hTERT immortalized cells. Over-expression of Aurora-A disrupted the DNA-damage- INK4A induced G2 checkpoint. The multiple alterations in p16 /RB and p53 pathways, and checkpoint defects caused by Aurora-A over-expression might further induce chromosomal instability and contribute to esophageal cell immortalization and carcinogenesis. DOI: 10.5353/th_b3204701 Subjects: Epithelial cells Continuous cell lines Papillomaviruses Cell transformation Esophagus - Cancer - Genetic aspects Cytogenetics

Diabetes Associated With Single Gene Defects And Chromosomal Abnormalities

Author : F. Barbetti
ISBN : 9783318060256
Genre : Medical
File Size : 45. 30 MB
Format : PDF, ePub
Download : 324
Read : 613

Get This Book


This volume, written by renowned experts, provides complete coverage of the main genetic conditions associated with diabetes. Divided into five sections, it offers insights into genetic defects involving the pancreatic beta cell, extreme insulin resistance, ciliopathies, obesity and glucose metabolism, chromosomal defects, and other genetic conditions associated with increased susceptibility to diabetes. Other topics include the various subtypes of monogenic diabetes, such as the neonatal form and the Wolfram syndrome, as well as chromosomal defects leading to complex conditions affiliated with diabetes, like Trisomy 21 or Prader-Willi syndrome. There are also chapters dedicated to the poorly explored relationships between metabolism and neurodegenerative disorders like Friedreich’s ataxia and muscular dystrophy. This book is a reference for every pediatric and adult endocrinologist and diabetologist, even experienced ones, with an interest in the intricacies and protean aspects of disorders of glucose metabolism secondary to genetic diseases.

Disruption Of Epigenetic Regulatory Elements And Chromosomal Alterations In Patients With Beckwith Wiedemann Syndrome

Author : Adam Campbell Smith
ISBN : 0494610964
Genre :
File Size : 36. 20 MB
Format : PDF, ePub, Docs
Download : 205
Read : 949

Get This Book


Genomic imprinting refers to the parent-of-origin specific monoallelic expression of a gene. Imprinted genes are often clustered in the genome and their expression is regulated by an imprinting centre (IC). ICs are regions of DNA that propagate the parental specific regulation of gene expression, which are usually characterized by differential DNA methylation, histone marks and the presence of non-coding RNAs. Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated with the dysregulation of imprinted gene expression on human chromosome band 11p15.5. The 11p15.5 imprinted region has two imprinting centres, IC1 and IC2. IC1 is telomeric and regulates the imprinted expression of the genes H19 and IGF2. IC2 is ∼700kb centromeric and is associated with a cluster of nine imprinted genes including CDKN1C, KCNQ1 and an imprinted non-coding RNA associated with IC2, KCNQ1OT1.Loss of differential DNA methylation at IC2 is seen in 50% of patients with BWS with loss of imprint of the non-coding RNA KCNQ1OT1 and associated with a decreased expression of the putative tumour suppressor CDKN1C. Patients with BWS also have a thousand-fold increased risk of pediatric cancer. The focus of this thesis involves investigation of dysregulation of imprinting in three groups of BWS patients. Firstly, I show that BWS patients with alveolar rhabdomyosarcoma have constitutional loss of methylation at IC2 and biallelic expression of KCNQ1OT1. Secondly, loss of methylation at IC2 has been previously associated with female monozygotic twins discordant for BWS. In male monozygotic twins with BWS, however, the molecular lesions reflect the molecular heterogeneity seen in BWS singletons. Thirdly, BWS patients associated with translocations and inversions that have breakpoints within the KCNQ1 gene near IC2 show regional gain of DNA methylation around the breakpoint and decreased expression of CDKN1C. Therefore, using a rare collection of BWS patients, I have attempted to determine the various roles of the imprinting centres IC1 and IC2 and their involvement in tumourigenesis, monozygotic twinning and structural chromosomal rearrangements causing BWS.

Chromosome Abnormalities And Genetic Counseling

Author : R.J.M McKinlay Gardner
ISBN : 9780199749157
Genre : Medical
File Size : 52. 1 MB
Format : PDF, ePub, Mobi
Download : 570
Read : 322

Get This Book


Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period. Questions like, "Why did an abnormality happen? Why did it cause the problems we see in our child? Would it happen again in a future child? How could we avoid it happening again?" are common concerns for families. This new edition of Chromosome Abnormalities and Genetic Counseling deals with these universal questions, and in the context of the recent developments in molecular cytogenetic analysis, but retaining always the major focus on the needs of the families in which these conditions occur. Thoroughly updated once again, this richly-illustrated text combines basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. The book will give counselors the information that will enable them to help concerned parents accommodate and adapt to their particular chromosomal challenges and to determine what may be, for them, the best course of action.

The Effects Of Chromosomal Protein Alterations On Dna Topology

Author : Vicki Gee Norton
ISBN : UCAL:X42629
Genre :
File Size : 33. 61 MB
Format : PDF, Docs
Download : 757
Read : 436

Get This Book



Top Download:

Best Books