Download Analyzing Chromosomes - B. Czepulkowski (BIOS, 2001) WW PDF

TitleAnalyzing Chromosomes - B. Czepulkowski (BIOS, 2001) WW
TagsMedical
LanguageEnglish
File Size14.0 MB
Total Pages221
Table of Contents
                            Header
Cover
Contents
Abbreviations
Contributors
Introduction
Chapter 1 - Introducing the cell
	1. Introduction
	2. The cytoplasm
	3. The nucleus
	DNA Replication
		4.1 RNA transcription
	5. Mutation and DNA repair
	6. Chromosome organization and structure
		6.1 Mitosis
		6.2 Meiosis
	7. Chromosome function
		7.1 Chromosome architecture and transcriptional activity
		7.2 The difference between the X and Y chromosomes of mammals
	Further reading
Chapter 2 - Culture of human cells for chromosomal analysis
	1. Introduction
	2. Culture of peripheral blood samles
		2.1 Receipt of the sample
		2.2 Blood cell culture introduction
	3. Culture of cells from amniotic fluid
		3.1 Receipt of the sample
		3.2 Introduction to amniocyte cell culture
		3.3 Cell harvest
		3.4 Alternative harvest techniques
	4. Culture of chorionic villus samples
		4.1 Receipt of the sample
		4.2 Introduction to CVS culture
	5. Solid tissue culture
		5.1 Receipt of the sample
		5.2 Introduction to solid tissue cell culture
		5.3 Setting up of cultures
	6. Culture of bone marrow and leukemic blood
		6.1 Receipt of the sample
		6.2 Introduction to bone marrow, leukemic blood, and lymph node cell culture
		6.3 Setting up tissues from malignant conditions
	7. Culture of samples from chronic lymphoid leukemia and the lymphomas
		7.1 Receipt of the sample
		7.2 Culture of tissues from chornic lymphoid leukemias and lymphomas -- introduction
	8. Slide preparation
	Further Reading
	Protocol 2.1 - Setting up cell cultures and harvesting
	Protocol 2.2 - Amniotic fluid culture
	Protocol 2.3 - Harvesting amniocytes
	Protocol 2.4 - Thymidine blocking
	Protocol 2.5 - Addition of BrdU with colcemid
	Protocol 2.6 - Sorting of the chorionic villus sample
	Protocol 2.7 - Direct culture of chorionic villus samples
	Protocol 2.8 - Long-term culture of chorionic villus samples
	Protocol 2.9 - Setting up bone marrow and leukemic blood
	Protocol 2.10 - Synchronization of bone marrow cultures using a BrdU/FdU cocktail mixture
	Protocol 2.11 - Harvest of bone marrow and blood cultures
	Protocol 2.12 - Culture of samples from CLL blood and marrow
	Protocol 2.13 - Preparation and culture of samples from lymphomas
	Protocol 2.14 - Slide-making
Chapter 3 - Staining and banding of chromosome slides
	1. Introduction
	2. Banding techniques and their applications
	Acknowledgments
	References
	Protocol 3.1 - Solid staining
	Protocol 3.2 - Preparation of Leishman's stain for G-banding
	Protocol 3.3 - G-banding
	Protocol 3.4 - Q-banding
	Protocol 3.5 - C-banding
	Protocol 3.6 - R-banding
	Protocol 3.7 - Nucleolar organizer region (NOR) staining
	Protocol 3.8 - DAPI/distamycin A staining
Chapter 4 - Types of abnormalities observed in chromosomes
	1. Introduction
	2. Types of chromosomal changes
		2.1 Numerical chromosomal changes
		2.2 Structural chromosomal changes
		2.3 Uniparental diploidy, disomy and genomic imprinting
	3. Nomenclature for human chromosomes
		3.1 Nomenclature symbols
		3.2 Nomenclature symbols for acquired abnormalities and their respective clones
	References
Chapter 5 - Approaching Analysis
	1. Introduction
		1.1 Methods of analysis
	2. Guidelines for the analysis of chromosomes from constitutional studies
		2.1 Chromosome changes occuring from conception to term
		2.2 Chromosome changes occuring in neonates and young children with congenital malformations and/or developmental delay
		2.3 Chromosome changes occuring during puberty
		2.4 Other Chromosomal observations
		2.5 Interpreting 'normal' and abnormal karyotypes
		2.6 Problems of interpretation arising in cell culture
	3. Guidelines for the analysis of chromosomes from malignant tissues
		3.1 Prompt arrival of the sample
		3.2 Metaphase quality and availability
		3.3 The number of metaphase spreads to be analyzed
		3.4 Cytogenetic analysis experience
	4. Clonal abnormality
	References
Chapter 6 - Constitutional chromosome abnormalities
	1. Introduction
	2. Trisomy 21 - Down syndrome
		2.1 Clinical findings
	3. Trisomy 18 - Edward syndrome
		3.1 Clinical findings
	4. Trisomy 13 - Patau syndrome
		4.1 Clinical findings
	5. 45,X - Turner syndrome
		5.1 Clinical findings
	6. 47, XXY - Klinefelter syndrome
		6.1 Clinical findings
	7. 46, XX males
		7.1 Clinical findings
	8. 47, XYY
		8.1 Clinical findings
	9. 47, XXX
		9.1 Clinical findings
	10. Triploidy
		10.1 Clinical findings
	11. Microdeletion syndromes and chromosomal duplications
		11.1 Prader-Willi and Angelman syndromes
	12. Marker chromosomes
	13. Ring chromosomes
	14. Fragile X syndrome
	Acknowledgments
	References
	Further Reading
Chapter 7 - Acquired chromosome abnormalities observed in malignancy
	1. Introduction
	2. Classification and clinical symptoms of myeloid malignancies
		2.1 Acute myeloid leukemia
		2.2 Myelodysplastic syndromes (MDS) and myeloproliferative disorders (MPD)
	3. Chromosomal abnormalities observed in acute myeloid leukemia
		3.1 Acute myeloid leukemia - FAB category M0
		3.2 Acute myeloid leukemia - FAB category M1
		3.3 Acute myeloid leukemia - FAB category M2
		3.4 Acute myeloid leukemia - FAB category M2-baso
		3.5 Acute promyelocytic leukemia - FAB category M3 and M3V
		3.6 Acute myeloid leukemia - FAB category M4Eo
		3.7 Acute myeloid leukemia - FAB categories M4 and M5
		3.8 Acute myeloid leukemia - FAB category M5a
		3.9 Acute myeloid leukemia - FAB category M6
		3.10 Acute myeloid leukemia - FAB category M7
	4. Chromosome changes in myelodysplastic syndromes
	5. Chromosome changes in myeloproliferative disorders
		5.1 Chronic myeloid leukemia
		5.2 Polycythemia rubra vera
		5.3 Chromosomal changes in other myeloproliferative disorders
	6. Acute lymphoblastic leukemia
		6.1 Classification of acute lymphoblastic leukemias
		6.2 FAB classification system
		6.3 Immunophenotyping
		6.4 Hematological findings and symptoms of disease
		6.5 Chromosome abnormalities observed in ALL
		6.6 Other abnormalities in ALL
	7. Chronic lymphoproliferative disorders and lymphomas
		7.1 Classification of chronic lymphoproliferative disorders and lymphomas
		7.2 Established chromosome abnormalities in chronic lymphoproliferative disorders
		7.3 The lymphomas
		7.4 Chromosome abnormalities observed in non-Hodgkin's lymphomas
		7.5 Chromosome changes in Hodgkin's disease
	8. Solid tumors
		8.1 Chromosome changes in solid tumors
	9. Summary
	Acknowledgments
	References
	Further Reading
Chapter 8 - New complementary techniques
	1. Introduction
	2. Flourescent in situ hybridization
		2. 1 Introduction
		2.2 Applications of FISH
		2.3 Important steps in FISH
		2.4 Reporting of FISH results
		2.5 Protocols
	3. Twenty-four color painting
	4. Color banding
	5. Primed in situ hybridization
	6. Fiber FISH
	7. Comparative genomic hybridization
		7.1 Overview of the techniques used in CGH
		7.2 Reporing of CGH results
	8. The present and future of cytogenetics
	References
	Protocol 8.1 - Processing of uncultured blood and bone marrow preparations for interphase FISH
	Protocol 8.2 - Processing of uncultured amniocytes for interphase FISH
	Protocol 8.3 - Pre-treatment of slides for uncultured samples (or very cytoplasmic samples)
	Protocol 8.4 - Standard protocol for in situ hybridization
Appendix 1 - Glossary of terms
Appendix 2
Index
                        

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