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Andrew Read & Dian Donnai 1904842313 PB 2007 Scion Publishing 450 pp Rs. 795.00
Description: New Clinical Genetics provides all those involved in medical genetics with a unique clinical guide based on post-genomic technologies. Whether you are a medical student, a genetic counselor, or a clinical geneticist, this book offers something new, with descriptions of the latest molecular tests linked to realistic cases to show how modern genetics works in the clinic.
Each chapter answers common questions, such as:
What can we learn from a family history? • How do genes work? • How can we check a patient's DNA for gene mutations? • What is epigenetics? • Should we be testing for genetic susceptibility to common diseases? • What can we do about genetic disease? • Within every chapter, the authors have integrated realistic case studies with basic human genetics to allow readers to see how their understanding can be applied in clinical practice. This approach also allows readers to choose different routes through the book.
Those who prefer a problem-based approach can work through the individual case studies and Investigations of patients sections and be introduced to the genetics as it relates to each case, using the science sections as reference material.
Those who prefer a more didactic approach can concentrate on the science in the Background and Summary and extension sections, referring to the Case Studies for illustrations of the practical application of genetics in a clinical setting.
All chapters conclude with self-assessment questions so that readers can check that they have mastered the material.
Contents:
• What can we learn from a family history?; Case studies; Background- How to take a family history and draw a pedigree; Investigations of patients; Summary and extension- the art of pedigree interpretation; Penetrance and expressivity-pitfalls in inheritance and counselling; Rarer modes of inheritance; Mosaicism; References; Self-assessment questions •
How can a patient’s chromosomes be studied? ; Case studies; Background- why clinicians need to know about chromosomes; How are chromosomes studied? Material for chromosome analysis; Chromosomes and their abnormalities; Chromosome abnormalities- Why do we have chromosomes? The behaviour of chromosomes during cell division; Investigations of patients; Summary and extension- What are chromosomes?; Numerical and structural abnormalities; Balanced and unbalanced abnormalities; Constitutional and mosaic abnormalities; Self- assessment questions •
• How do genes work? ; Case studies; Background; Investigations of patients; Summary and extension- Some chemistry; Genes are much bigger than you think; Switching genes on and off- transcription and its controls; One gene often encodes more than one protein; What does all our DNA do? A hidden RNA world; References; Self-assessment questions •
• How can a patient’s DNA be studied? ; Case studies; Background; Investigations of patients; Summary and extension- Quantitative PCR; Real-time PCR; Testing RNA; Testing protein; Chromosome painting; References; Self-assessment questions •
How can we check a patient’s DNA for gene mutations?; Case studies; Background; Investigations of patients; Summary and extension- The three questions; Mutation detection using chips; Other methods for genotyping or sequencing DNA; Methods for scanning a gene for any sequence change; Methods for detecting deletions or duplication of whole exons •
• What do mutations do?; Case studies; Background; Investigations of patients; Summary and extension; Loss of function and gain of function changes; Dominant or recessive?; Understanding the phenotype; Genotype-phenotype correlations; Predicting the phenotype: the problem of novel mis-sense changes; Dosage sensitivity and the pathology of chromosomal abnormalities; Somatic mutations; How do mutations arise? Self-assessment questions
• What is epigenetics?; Case questions; Background; Investigations of patients; Summary and extension- CpG as a mutation hotspot; X-inactivation has implications for women who carry an X- autosome translocation; Other imprinting-related disorders; What is the purpose of imprinting? How important are epigenetic effects?
• How do genes affect our metabolism, drug responses and immune system?; Case studies; Background; Investigations of patients; Summary and Extension; Inborn errors of metabolism; Pharmacogenetics; Immunogenetics; References;
• How do researchers identify genes for mendelian diseases?; Background; Investigations of patients; Summary and extension- What is the chance the offspring of a consanguineous marriage will have a recessive disease?; Can we abolish genetic disease • Why are some conditions common and others rare?
• When is screening useful? ; Case studies; Background; Investigations of patients; Summary and extension: What conditions should we screen for? The population attributable risk; Criteria used by the UK National Screening Committee; Lifestyle genetic testing;
• Is cancer genetic?; Summary and extension- Hereditary non-polyposis colon cancer; The multistage development of cancer; Epigenetics in cancer; Are familial breast and colon cancer really multifactorial conditions? Expression profiling of tumors;
• Should we be testing for genetic susceptibility to common disease?; Case studies; Background; Investigations of patients; Summary and extension: Problems with association studies; A resource for association studies; the HapMap project; A risk in association studies: everything depends on the Common Disease- Common Variant hypothesis; References; Self- assessment questions
• What can we do about genetic disease?; Case studies; Background; Investigations of patients; Summary and extension- Gene therapy; stem cell therapy; Diagnosis and counseling; Testing; Treatment • Guidance for self-assessment questions
• Index • Case notes
About the authors: Andrew Read (PhD, FRCPath, FMedSci) is Professor of Human Genetics at the University of Manchester.
Dian Donnai (FRCP, FRCPCH, FMedSci) is Professor of Medical Genetics at the University of Manchester and Consultant Clinical Geneticist in the NW Regional Genetics Service.
Target Audience: Medical students, genetic counsellors, clinical geneticists.
Each chapter answers common questions, such as:
What can we learn from a family history? • How do genes work? • How can we check a patient's DNA for gene mutations? • What is epigenetics? • Should we be testing for genetic susceptibility to common diseases? • What can we do about genetic disease? • Within every chapter, the authors have integrated realistic case studies with basic human genetics to allow readers to see how their understanding can be applied in clinical practice. This approach also allows readers to choose different routes through the book.
Those who prefer a problem-based approach can work through the individual case studies and Investigations of patients sections and be introduced to the genetics as it relates to each case, using the science sections as reference material.
Those who prefer a more didactic approach can concentrate on the science in the Background and Summary and extension sections, referring to the Case Studies for illustrations of the practical application of genetics in a clinical setting.
All chapters conclude with self-assessment questions so that readers can check that they have mastered the material.
Contents:
• What can we learn from a family history?; Case studies; Background- How to take a family history and draw a pedigree; Investigations of patients; Summary and extension- the art of pedigree interpretation; Penetrance and expressivity-pitfalls in inheritance and counselling; Rarer modes of inheritance; Mosaicism; References; Self-assessment questions •
How can a patient’s chromosomes be studied? ; Case studies; Background- why clinicians need to know about chromosomes; How are chromosomes studied? Material for chromosome analysis; Chromosomes and their abnormalities; Chromosome abnormalities- Why do we have chromosomes? The behaviour of chromosomes during cell division; Investigations of patients; Summary and extension- What are chromosomes?; Numerical and structural abnormalities; Balanced and unbalanced abnormalities; Constitutional and mosaic abnormalities; Self- assessment questions •
• How do genes work? ; Case studies; Background; Investigations of patients; Summary and extension- Some chemistry; Genes are much bigger than you think; Switching genes on and off- transcription and its controls; One gene often encodes more than one protein; What does all our DNA do? A hidden RNA world; References; Self-assessment questions •
• How can a patient’s DNA be studied? ; Case studies; Background; Investigations of patients; Summary and extension- Quantitative PCR; Real-time PCR; Testing RNA; Testing protein; Chromosome painting; References; Self-assessment questions •
How can we check a patient’s DNA for gene mutations?; Case studies; Background; Investigations of patients; Summary and extension- The three questions; Mutation detection using chips; Other methods for genotyping or sequencing DNA; Methods for scanning a gene for any sequence change; Methods for detecting deletions or duplication of whole exons •
• What do mutations do?; Case studies; Background; Investigations of patients; Summary and extension; Loss of function and gain of function changes; Dominant or recessive?; Understanding the phenotype; Genotype-phenotype correlations; Predicting the phenotype: the problem of novel mis-sense changes; Dosage sensitivity and the pathology of chromosomal abnormalities; Somatic mutations; How do mutations arise? Self-assessment questions
• What is epigenetics?; Case questions; Background; Investigations of patients; Summary and extension- CpG as a mutation hotspot; X-inactivation has implications for women who carry an X- autosome translocation; Other imprinting-related disorders; What is the purpose of imprinting? How important are epigenetic effects?
• How do genes affect our metabolism, drug responses and immune system?; Case studies; Background; Investigations of patients; Summary and Extension; Inborn errors of metabolism; Pharmacogenetics; Immunogenetics; References;
• How do researchers identify genes for mendelian diseases?; Background; Investigations of patients; Summary and extension- What is the chance the offspring of a consanguineous marriage will have a recessive disease?; Can we abolish genetic disease • Why are some conditions common and others rare?
• When is screening useful? ; Case studies; Background; Investigations of patients; Summary and extension: What conditions should we screen for? The population attributable risk; Criteria used by the UK National Screening Committee; Lifestyle genetic testing;
• Is cancer genetic?; Summary and extension- Hereditary non-polyposis colon cancer; The multistage development of cancer; Epigenetics in cancer; Are familial breast and colon cancer really multifactorial conditions? Expression profiling of tumors;
• Should we be testing for genetic susceptibility to common disease?; Case studies; Background; Investigations of patients; Summary and extension: Problems with association studies; A resource for association studies; the HapMap project; A risk in association studies: everything depends on the Common Disease- Common Variant hypothesis; References; Self- assessment questions
• What can we do about genetic disease?; Case studies; Background; Investigations of patients; Summary and extension- Gene therapy; stem cell therapy; Diagnosis and counseling; Testing; Treatment • Guidance for self-assessment questions
• Index • Case notes
About the authors: Andrew Read (PhD, FRCPath, FMedSci) is Professor of Human Genetics at the University of Manchester.
Dian Donnai (FRCP, FRCPCH, FMedSci) is Professor of Medical Genetics at the University of Manchester and Consultant Clinical Geneticist in the NW Regional Genetics Service.
Target Audience: Medical students, genetic counsellors, clinical geneticists.
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