9780124662575

From Genotype to Phenotype

by
  • ISBN13:

    9780124662575

  • ISBN10:

    0124662579

  • Edition: 1st
  • Format: Hardcover
  • Copyright: 2001-11-01
  • Publisher: ACADEMIC PRESS INC

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Summary

This volume of the Human Molecular Genetics series covers such genotype-phenotype correlations as clinical and environmental aspects, gene structure, expression, and mutation. Also discussed are models of certain diseases and future prospects for treatment and prevention. This book provides the reader with a basic overview of the physical expression of genetic disease before discussing in detail the most recent research and therapeutic developments.

Table of Contents

Contributors ix
Abbreviations xi
Preface xv
Genotype to phenotype: interpretations of the human genome project
1(12)
Sue Malcolm
The genome project
1(3)
Mutation vs. polymorphism
4(2)
The mutation defines the disorder
6(1)
Interacting genes
7(3)
Conclusions
10(3)
From protein sequence to structure and function
13(18)
Sylvia B. Nagl
Introduction
13(1)
Predicting gene function
14(12)
Future directions: toward a `global biology'
26(5)
Genes in population
31(24)
Francois Cambien
Population structure and dynamics
31(1)
Genetic variability and evolution
32(18)
Conclusion
50(5)
Gene-environment interaction: lipoprotein lipase and smoking and risk of CAD and the ACE and exercise-induced left ventricular hypertrophy as examples
55(18)
Steve E. Humphries
Philippa J. Talmud
Hugh Montgomery
Introduction
55(1)
Risk factors for CAD
56(2)
Homeostasis and use of stressing the genotype to identify functional variants
58(2)
How mutations identify rate-limiting steps in biochemical pathways
60(8)
Analytical problems for gene-environment interaction studies
68(1)
Conclusions
68(5)
Pharmacogenomics
73(12)
Ann K. Daly
Introduction
73(1)
Genetic polymorphisms relating to drug metabolism and disposition
73(7)
Polymorphisms affecting drug targets
80(2)
The future for pharmacogenomics
82(3)
Mitochondrial genetics
85(22)
P.F. Chinnery
D.M. Turnbull
Introduction
85(1)
Basic mitochondrial genetics and biochemistry
85(2)
Polymorphic variability of the mitochondrial genome
87(1)
Pathogenic mitochondrial DNA defects and disease
88(4)
From genotype to biochemical phenotype
92(1)
From genotype to clinical phenotype
93(3)
The inheritance of pathogenic mtDNA defects
96(2)
The investigation of patients with suspected mtDNA disease
98(2)
Therapeutic manipulation of the mitochondrial genome
100(1)
Conclusion
101(6)
Identification of disease susceptibility genes (modifier) in mouse models: cancer and infectious disease
107(24)
Tom van Wezel
Marie Lipoldova
Peter Demant
Introduction
107(4)
Cancer genetics in mouse strains, current QTLs
111(8)
Use of RCS for analysis of immune response
119(5)
Summary
124(7)
The GNAS1 gene
131(16)
D.T. Bonthron
Introduction
131(1)
Pseudohypoparathyroidism (PHP) and Albright hereditary osteodystrophy (AHO)
131(4)
Anomalous inheritance of PHP-la - imprinting of GNAS1
135(4)
Mutational spectrum of GNAS1
139(1)
Activating mutations of GNAS1
140(1)
PHP-lb; a tissue-specific GNAS1 imprinting defect
141(1)
Mechanistic heterogeneity in PHP-lb
142(1)
Summary
142(5)
Genomic disorders
147(18)
Susan L. Christian
David H. Ledbetter
Introduction
147(1)
Type I: single gene disorders
147(5)
Type II: contiguous gene syndromes
152(5)
Mechanism of rearrangement
157(3)
Conclusions
160(5)
Genotype to phenotype in the spinocerebellar ataxias
165(24)
Paul F. Worth
Nicholas W. Wood
Introduction
165(2)
Molecular characteristics of CAG repeats
167(6)
Genotype-phenotype correlation
173(3)
Clinico-pathological correlation
176(2)
Pathophysiology of trinucleotide repeat disorders
178(3)
Conclusions
181(8)
Disorders of cholesterol biosynthesis
189(20)
David R. Fitzpatrick
Introduction
189(1)
The function of membrane cholesterol
189(1)
Related sterols
189(1)
The origins of cellular cholesterol
190(1)
Endogenous synthesis of cholesterol
190(4)
Inborn errors of cholesterol biosynthesis
194(1)
Mevalonate kinase deficiency
194(2)
3-sterol dehydrogenase (3SD) deficiency
196(2)
Sterol isomerase deficiency
198(1)
7-dehydrocholesterol reductase deficiency
199(2)
24 sterol reductase deficiency
201(1)
The mechanism of developmental pathology
202(1)
Future research
203(6)
Mutations in the human HOX genes
209(20)
Frances R. Goodman
Introduction
209(2)
Synpolydactyly (SPD) and HOXD13
211(3)
Hand-foot-genital syndrome (HFGS) and HOXA13
214(3)
Hemizygosity for the HOXA and HOXD gene clusters
217(1)
Functional effects of the HOXD13 and HOXA13 mutations
218(4)
What further HOX gene mutations remain to be found
222(7)
PITX2 gene in development
229(10)
J. Murray
E. Semina
Introduction
229(1)
Roles of PITX2 in development
229(6)
The Pitx family
235(1)
Conclusion
235(4)
The hedgehog pathway and developmental disorders
239(14)
Allan E. Bale
Introduction
239(1)
Biochemistry of the hedgehog pathway
240(2)
What human disease and mouse models tell us about the function of the hedgehog pathway
242(6)
Conclusions
248(5)
X-linked immunodeficiences
253(22)
H. B. Gaspar
Christine Kinnon
Introduction
253(1)
X-linked severe combined immunodeficiency
253(5)
X-linked agammaglobulinemia (XLA)
258(4)
Wiskott-Aldrich syndrome
262(2)
X-linked lymphoproliferative syndrome
264(2)
X-linked chronic granlomatous disease
266(1)
X-linked hyper IgM syndrome
267(1)
Properdin deficiency
268(7)
The ubiquitin-proteasome system and genetic diseases: protein degradation gone awry
275(14)
S. Russ Price
William E. Mitch
Introduction
275(1)
The ubiquitin-proteasome pathway
275(5)
Ubiquitin-like modifier proteins (UBLs)
280(1)
Gebetic abnormalities involving the ubiquitin-proteasome system
280(5)
Summary
285(4)
Index 289

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