Human Genetics: A Problem-Based Approach

by Korf, Bruce R.

• ISBN13: 9780632044252
• ISBN10: 063204425X
• Edition: 2nd
• Format: Paperback
• Copyright: 1999-09-01
• Publisher: John Wiley & Sons Inc

Summary

Human Genetics, the first genetics book to combine text with problem-based tutorial exercises, is the ideal textbook for student-driven learning. Each chapter focuses on a core concept of human genetics, illustrated by a corresponding clinical case that guides the reader through key principles in the text. Material from classic Mendelain genetics, molecular genetics, and quantitative genetics provides a context in which the role of genes in disease can be readily understood. Additionally, 300 illustrations clarify and reinforce discussions of genetic disorders. And, questions at the end of each chapter facilitate self-assessment.

Table of Contents

Preface to Second Edition	xi
Preface to First Edition	xii
Introduction	xiii
Inborn Errors of Metabolism	1	(50)
Oculocutaneous Albinism	3	(2)
Autosomal Recessive Genetic Transmission	5	(4)
Inborn Errors of Metabolism	9	(7)
The Chemical Basis of Heredity	16	(3)
Gene Cloning	19	(3)
Cloning the Gene for Tyrosinase	22	(6)
Tyrosinase Mutations	28	(3)
Genetic Heterogeneity in Albinism	31	(4)
Genotype-Phenotype Correlations in OCA	35	(1)
Molecular Diagnosis of Inborn Errors of Metabolism	36	(3)
Treatment of Inborn Errors of Metabolism	39
Genetics in Medical Practice	8	(32)
Perspective: Living with Albinism	40	(3)
Case Study	43	(5)
Review Questions	48	(1)
Further Reading	49	(2)
Structural Gene Mutations	51	(40)
Osteogenesis Imperfecta	53	(1)
Autosomal Dominant Genetic Transmission	54	(6)
Biochemical Basis of Osteogensis Imperfecta	60	(4)
Collagen Genes	64	(4)
Linkage of Collagen Genes with Osteogenesis Imperfecta	68	(4)
Genetic Basis of Osteogenesis Imperfecta	72	(1)
Mouse Model for Osteogenesis Imperfecta	73	(2)
Genotype-Phenotype Correlations in Osteogenesis Imperfecta	75	(1)
Somatic Mosaicism for Collagen Mutations	75	(2)
Other Disorders Associated with Defects in Collagen	77	(3)
Management of Connective Tissue Disorders	80
Perspective: Living with Osteogenesis Imperfecta	78	(2)
Genetics in Medical Practice	80	(1)
Case Study	81	(7)
Review Questions	88	(1)
Further Reading	89	(2)
The Human Genome	91	(48)
Cystic Fibrosis	93	(1)
Genetics of Cystic Fibrosis	93	(2)
Mapping the Gene for Cystic Fibrosis	95	(6)
Diagnosis of Cystic Fibrosis by Linkage Analysis	101	(7)
Linkage Disequilibrium	108	(2)
Cloning the Gene for Cystic Fibrosis	110	(5)
Detection of Mutations in CFTR	115	(5)
Treatment of Cystic Fibrosis	120	(3)
The Human Genome Project	123	(6)
Preimplantation Diagnosis of Cystic Fibrosis	129
Genetics in Medical Practice	105	(21)
Perspective: Living with Cystic Fibrosis	126	(4)
Case Study	130	(7)
Review Questions	137	(1)
Further Reading	137	(2)
X-Linked Genetic Transmission	139	(42)
Duchenne Muscular Dystrophy	141	(1)
X-Linked Recessive Genetic Transmission	141	(4)
X Chromosome Inactivation	145	(6)
Mapping the Gene for DMD	151	(4)
Cloning the Gene for DMD	155	(1)
Dystrophin: The Protein Product of the DMD Gene	156	(3)
The Molecular Basis of Duchenne and Becker Muscular Dystrophy	159	(3)
Molecular Diagnosis of Duchenne and Becker Dystrophy	162	(5)
Detection of Dystrophin Deletion Carriers	167	(3)
Pathogenesis and Treatment of Muscular Dystrophy	170
Genetics in Medical Practice	167	(3)
Perspective: Living with a Child with Duchenne Muscular Dystrophy	170	(2)
Case Study	172	(7)
Review Questions	179	(1)
Further Reading	180	(1)
Chromosomes and Chromosomal Abnormalities	181	(44)
A Newborn with Multiple Congenital Anomalies	183	(1)
Chromosomal Analysis	184	(3)
Subtle Chromosomal Abnormalities	187	(5)
Chromosomal Rearrangements	192	(3)
Meiotic Segregation of Variant Chromosomes	195	(4)
Prenatal Diagnosis of Chromosomal Abnormalities	199	(4)
Chromosomal Mosaicism	203	(2)
Genotype-Phenotype Correlations	205	(3)
Genomic Imprinting	208
Genetics in Medical Practice	196	(19)
Perspective: Living with a Child with a Chromosome Deletion	215	(1)
Case Study	216	(7)
Review Questions	223	(1)
Further Reading	224	(1)
Multifactorial Inheritance	225	(27)
Neural Tube Defects	227	(2)
Recurrence Risk of Neural Tube Defects	229	(2)
Multifactorial Inheritance	231	(1)
Threshold Model of Multifactorial Inheritance	232	(1)
Prenatal Diagnosis of Neural Tube Defects	233	(3)
Folic Acid and Neural Tube Defects	236	(1)
Animal Models of Neural Tube Defects	237	(2)
Care of Persons with Neural Tube Defects	239	(1)
Genetics of Common Disease	240
Genetics in Medical Practice	230	(14)
Perspective: Living with a Child with Spina Bifida	244	(1)
Case Study	244	(6)
Review Questions	250	(1)
Further Reading	250	(2)
Mitochondrial Inheritance	252	(23)
MERRF	254	(2)
Maternal Genetic Transmission	256	(3)
Mitochondrial Energy Failure in MERRF	259	(2)
Heteroplasmy	261	(4)
Other Mitochondrial Disorders	265	(5)
Treatment of Mitochondrial Disorders	270
Mitochondrial DNA Polymorphisms	268	(2)
Perspective: Living with a Child with MELAS	270
Genetics in Medical Practice	268	(2)
Case Study	270	(3)
Review Questions	273	(1)
Further Reading	274	(1)
Cancer Genetics	275	(36)
Retinoblastoma	277	(1)
Genetics of Retinoblastoma	278	(2)
The Retinoblastoma Gene	280	(3)
Cloning the Retinoblastoma Gene	283	(4)
Oncognes	287	(4)
The Normal Roles of Proto-Oncogenes	291	(2)
The Molecular Basis of Oncogenesis	293	(5)
Genetics and the Treatment of Cancer	298	(1)
Genetics in Medical Practice	298	(2)
Perspective: Living with a Child with Retinoblastoma	300	(1)
Case Study	301	(8)
Review Questions	309	(1)
Further Reading	309	(2)
Developmental Genetics	311	(23)
Waardenburg Syndrome	312	(1)
Mapping the Gene for Waardenburg Syndrome	313	(3)
Identification of Candidate Genes	316	(2)
The Gene for Waardenburg Syndrome	318	(2)
Inducers of Differentiation	320	(3)
Human Dysmorphology	323
Genetics in Medical Practice	322	(2)
Perspective: Living with Waardenburg Syndrome	324	(3)
Case Study	327	(5)
Review Questions	332	(1)
Further Reading	332	(2)
Population Genetics	334	(29)
Thalassemia	335	(1)
Population Frequency of Thalassemia	336	(2)
Population Screening for Thalassemia	338	(3)
Globin Gene Mutations	341	(5)
Genetic Polymorphism	346	(7)
New Approaches to Treatment of Thalassemia	353
Genetics in Medical Practice	341	(13)
Perspective: Living with a Child with Beta-Thalassemia	354	(2)
Case Study	356	(5)
Review Questions	361	(1)
Further Reading	361	(2)
Answers to Review Questions	363	(3)
Glossary	366	(9)
Index	375