Respiratory Genetics

by Edwin K. Silverman; Steven D. Shapiro; David A. Lomas; Scott T. Weiss

• ISBN13: 9780340814321
• ISBN10: 0340814322
• Format: Hardcover
• Copyright: 2005-12-08
• Publisher: Hodder Arnold Publishers

Summary

This authoritative reference brings together current knowledge in the field of respiratory genetics in a single volume for the first time. The book includes a comprehensive introductory section to provide guidance and aid understanding of key basic concepts in respiratory genetics, includingstatistical methods, sample collection and storage, bioinformatics, and molecular genetics. This is followed by a series of disease-specific chapters which review epidemiology; natural history; monogenic components and complex traits where relevant; disease management, including genetic counselingissues; and likely future developments. Chapters are written in a uniform structure--ensuring consistency of approach throughout--and each concludes with a summary highlighting practical "take-home" messages regarding patient management for the reader. It is also highly illustrated, including colorplates where appropriate.

Table of Contents

Contributors	ix
Preface	xiii
Acknowledgements	xv
List of abbreviations used	xvii
Reference annotation	xxi
Part 1 Key concepts in respiratory genetics	1	(216)
Overview of human genetics	3	(12)
Edwin K. Silverman
Scott T. Weiss
Phenotypes for human respiratory genetics	15	(12)
Augusto A. Litonjua
Scott T. Weiss
Testing for association in genetic studies	27	(20)
Nan Laird
Peter Kraft
Christoph Lange
Kristel Van Steen
Molecular characterization of genetic variation	47	(36)
Sample collection and processing in human respiratory genetics	49	(8)
Benjamin A. Raby
Jody S. Sylvia
Edwin K. Silverman
Genetic variation, genotyping, and sequencing	57	(26)
Benjamin A. Raby
Jody S. Sylvia
Edwin K. Silverman
Bioinformatics	83	(42)
Public databases and SNPs	85	(22)
Ross Lazarus
Genomics and proteomics in lung disease: microarrays and bioinformatics issues	107	(18)
Isaac S. Kohane
Functional genomics	125	(52)
Clinical functional genomics	127	(8)
David J. Halsall
Elizabeth A. Davidson
Expression and purification of recombinant proteins	135	(6)
Damian C. Crowther
Functional characterization of a protein	141	(8)
Didier Belorgey
David A. Lomas
Biophysical analysis of proteins and protein--protein interactions	149	(8)
Timothy R. Dafforn
Crystallography, nuclear magnetic resonance, and modeling	157	(12)
Roger B. Dodd
Randy J. Read
Functional analysis of mutant proteins in cells	169	(8)
Paul D. Upton
Nicholas W. Morrell
Genomic physiology in animals	177	(14)
Steven D. Shapiro
Dawn L. DeMeo
Pharmacogenetics	191	(26)
Kelan G. Tantisira
Jeffrey M. Drazen
Part 2 Obstructive lung diseases	217	(96)
Asthma genetics	219	(34)
Juan C. Celedon
Benjamin A. Raby
Scott T. Weiss
Chronic obstructive pulmonary disease	253	(44)
Craig P. Hersh
Dawn L. DeMeo
Edwin K. Silverman
Cystic fibrosis	297	(16)
Joshua Groman
Garry R. Cutting
Part 3 Interstitial lung diseases	313	(46)
Idiopathic pulmonary fibrosis	315	(14)
Karl W. Thomas
Gary W. Hunninghake
Sarcoidosis	329	(30)
Paul A. Beirne
Stavros E. Anevlavis
Roland M. du Bois
Part 4 Miscellaneous pulmonary conditions	359	(140)
Pulmonary hypertension	361	(32)
James E. Loyd
John H. Newman
John A. Phillips III
Genetics of lung cancer	393	(30)
Rebecca Suk
David C. Christiani
Respiratory infections	423	(14)
Michael F. Murray
Peter V. Tishler
Congenital, metabolic, and neuromuscular diseases	437	(22)
Natasha Y. Frank
Peter V. Tishler
Other rare lung diseases	459	(40)
Disorders of surfactant homeostasis	461	(18)
Ralph J. Panos
Bruce C. Trapnell
Lymphangioleiomyomatosis	479	(12)
Francis X. McCormack
Hermansky--Pudlak Syndrome	491	(8)
Lisa R. Young
Francis X. McCormack
Glossary	499	(14)
Index	513