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Book Cover
E-book
Author Wright, Alan.

Title Genes and Common Diseases : Genetics in Modern Medicine
Published Cambridge : Cambridge University Press, 2007
Online access available from:
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Description 1 online resource (562 pages)
Contents Cover; Half-title; Title; Copyright; Contents; Contributors; Foreword; SECTION 1 Introductory principles; 1 Genes and their expression; What is a gene?; The transcriptome and the proteome; Gene expression; Transcriptional regulation; Promoters and the general transcription machinery; RNA polymerases; Cis-regulatory elements; Enhancers and repressors; Locus control regions; Boundary elements/insulators; Matrix attachment sites; A current view of enhancer action; Transcriptional regulation and chromatin remodeling; Chromatin structure; Chromatin modification and transcription
Diseases of genomic imprintingConclusions; Glossary; Acknowledgments; REFERENCES; 3 Population genetics and disease; Introduction; Genetic variation and genetic disease; Hardy-Weinberg and genetic drift; The coalescent; Selection; Multi-locus models and linkage disequilibrium; Measures of LD; Models of complex disease; Common disease-common variant ... or not?; Allelic heterogeneity at Mendelian loci; Experimental results; Sex Effects; Gene (x) environment interaction (GEI); Epistasis; Summary; REFERENCES; 4 Mapping common disease genes; Introduction
Genome-wide LD (linkage disequilibrium) patterningBottlenecks; Admixture; Admixture mapping; Localized LD patterning; Recombination and the shaping of localized LD; Selection and the shaping of localized LD; HapMap and tagging SNPs; Tagging with HapMap data; Example of tSNP design using SCN8a; Fine localization following initial association; The use of HapMap data to identify evidence for selection; Conclusions; REFERENCES; 6 Study design in mapping complex disease traits; Introduction; Goals of complex disease trait mapping; Important preliminary steps
Histone acetyl transferase activityATP-dependent chromatin remodeling activity; Epigenetic regulation through DNA modification; Nuclear compartmentalization and dynamics; Transcriptional regulation and disease; Concluding remarks; REFERENCES; 2 Epigenetic modification of chromatin; Location, location, location!; Chromatin; Histone modification; Chromatin remodeling; DNA modification; Transcriptional repression by DNA methylation; Alpha-thalassemia/mental retardation syndrome; ATR-X; Rett syndrome -- RTT; DNA methylation and cancer; Myeloid/lymphoid or mixed lineage leukemia
What is "gene mapping" and why is it useful?Variation and disease; Principles of gene mapping; Linkage mapping in families; Experimental designs; Association studies; Measures of linkage disequilibrium; Power or sample size in association studies; Sample collection and population stratification; SNP selection; Analysis of association studies; Multiple testing; Linkage meets association; Quantitative traits; Some success stories; Future considerations and prospects; Is there a future for linkage analysis?; Impact on health; REFERENCES; 5 Population diversity, genomes and disease; Introduction
Summary The aim of this book is to present an up-to-date view of the role of genetics in modern medicine
Notes Review of evidence for a genetic effect
Print version record
Subject Genetic Predisposition to Disease
Medical genetics.
Form Electronic book
Author Hastie, Nicholas.
ISBN 0511543557 (electronic bk.)
1281040371
9780511543555 (electronic bk.)
9781281040374