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, including statistical 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 counseling issues; 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 color plates where appropriate.
Author(s): Edwin K. Silverman, Steven D. Shapiro, David A. Lomas, Scott T. Weiss
Edition: 1
Year: 2005
Language: English
Pages: 550
Book title......Page 4
Contents......Page 8
Contributors......Page 10
Preface......Page 14
Acknowledgements......Page 16
List of abbreviations used......Page 18
Reference annotation......Page 22
Colour plates......Page 482
Part 1 Key concepts in respiratory genetics......Page 24
1 Overview of human genetics......Page 26
2 Phenotypes for human respiratory genetics......Page 38
3 Testing for association in genetic studies......Page 50
4 Molecular characterization of genetic variation......Page 70
4A: Sample collection and processing in human respiratory genetics......Page 72
4B: Genetic variation, genotyping, and sequencing......Page 80
5 Bioinformatics......Page 106
5A: Public databases and SNPs......Page 108
5B: Genomics and proteomics in lung disease: microarrays and bioinformatics issues......Page 130
6 Functional genomics......Page 148
6A: Clinical functional genomics......Page 150
6B: Expression and purification of recombinant proteins......Page 158
6C: Functional characterization of a protein......Page 164
6D: Biophysical analysis of proteins and protein–protein interactions......Page 172
6E: Crystallography, nuclear magnetic resonance, and modeling......Page 180
6F: Functional analysis of mutant proteins in cells......Page 192
7 Genomic physiology in animals......Page 200
8 Pharmacogenetics......Page 214
Part 2 Obstructive lung diseases......Page 240
9 Asthma genetics......Page 242
10 Chronic obstructive pulmonary disease......Page 276
11 Cystic fibrosis......Page 320
Part 3 Interstitial lung diseases......Page 336
12 Idiopathic pulmonary fibrosis......Page 338
13 Sarcoidosis......Page 352
Part 4 Miscellaneous pulmonary conditions......Page 382
14 Pulmonary hypertension......Page 384
15 Genetics of lung cancer......Page 416
16 Respiratory infections......Page 446
17 Congenital, metabolic, and neuromuscular diseases......Page 460
18 Other rare lung diseases......Page 486
18A: Disorders of surfactant homeostasis......Page 488
18B: Lymphangioleiomyomatosis......Page 506
18C: Hermansky–Pudlak Syndrome......Page 518
B......Page 526
C......Page 527
D......Page 528
E......Page 529
G......Page 530
H......Page 531
K......Page 532
M......Page 533
P......Page 534
R......Page 535
S......Page 536
T......Page 537
Z......Page 538
A......Page 540
B......Page 541
C......Page 542
D......Page 543
F......Page 544
G......Page 545
H......Page 546
K......Page 547
M......Page 548
N......Page 549
P......Page 550
R......Page 551
S......Page 552
T......Page 553
Z......Page 554
