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More About This Textbook
Overview
The process of genetic counseling involves many key components, such as taking a family genetic history, making a diagnosis, and providing communication and support to the family. Among these core processes is the mathematical calculation of the actual risk of a possible genetic disorder. For most physicians and counselors, the mathematics and statistics involved can be major challenge which is not always helped by complex computer programs or lengthy papers full of elaborate formulae. In this clear, reader-friendly guide, Ian Young addresses this problem and demonstrates how risk can be estimated for inherited disorders using a basic knowledge of the laws of probability and their application to clinical problems. The text employs a wealth of clearly explained examples and key points in order to guide the reader to an accurate assessment of the risk of genetic disease. It primarily will appeal to genetic counselors, geneticists, and all those involved in providing medical genetic services. In this new edition, Dr. Young has pruned redundancies and extensively updated the concepts in each of the 10 chapters, and he has included more working examples, a popular feature of the book.
The book contains black-and-white illustrations.
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Table of Contents
Genetic Counseling and the Laws of Probability 3
Genetic Counseling and the Concept of Risk 3
The Laws of Probability 5
The Binomial Distribution 8
Bayes' Theorem 11
Case Scenario 14
Autosomal Dominant Inheritance 18
Reduced Penetrance 18
Disorders with Late Onset (Age-Dependent Penetrance) 27
Variable Expression 30
Parents Have Two Different Autosomal Dominant Disorders 31
Parents Have the Same Autosomal Dominant Disorder 34
Affected Siblings Born to Unaffected Parents 35
Anticipation 38
Autosomal Recessive Inheritance 42
Hardy-Weinberg Equilibrium 42
Risk to the Offspring of a Healthy Sibling 43
Risks to the Extended Family 46
Risks to the Offspring of an Affected Homozygote 49
Two Brothers Marry Two Sisters 50
Siblings with Different Autosomal Recessive Disorders 53
Allowing for Separate Mutations 54
Consanguinity 58
Direct Mutation Analysis and Multiple Alleles 64
Case Scenario 67
X-Linked RecessiveInheritance 70
The Prior Probability That a Female Is a Carrier of an X-Linked Recessive Disorder 71
The Probability That the Mother of an Isolated Case Is a Carrier 72
The Carrier Risks for Female Relatives of an Isolated Case 73
Different Mutation Rates in Males and Females 81
Biological Fitness Is Greater Than Zero 86
Case Scenario 90
The Use of Linked DNA Markers 93
Basic Principles of Genetic Linkage 93
Autosomal Dominant Inheritance 95
Autosomal Recessive Inheritance 98
X-Linked Recessive Inheritance 103
Using Information from Flanking Markers 105
Disorders with Late Onset 109
Parental Genotypes Not Known 111
Linkage Disequilibrium 114
Linkage Heterogeneity 116
Case Scenario 118
Germline Mosaicism 120
What is Germline Mosaicism? 120
A Simplified Model of Gametogenesis 121
Applying This Simple Model 124
Risk Estimates for Use in Counseling 125
Case Scenario 1 127
Case Scenario 2 129
Polygenic and Multifactorial Inheritance 131
Polygenic Inheritance and the Normal Distribution 132
The Liability/Threshold Model 134
General Principles in Counseling for Multifactorial Disorders 135
Computer Program for Risk Estimation 137
The Use of Susceptibility Loci 139
Cancer Genetics 144
Breast Cancer 145
Colorectal Cancer 153
Balanced Chromosome Rearrangements 158
Reciprocal Translocations 160
Robertsonian Translocations 170
Three-Way Translocations 175
Pericentric Inversions 177
Paracentric Inversions 181
Insertions 183
Rearrangements Involving an X Chromosome 186
Case Scenario 188
Other Mechanisms of Inheritance 192
X-Linked Dominant Inheritance 192
X-Linked Dominant Inheritance with Male Lethality 193
X-Linked Dominant Inheritance with Male Sparing 194
Metabolic Interference 195
Digenic Inheritance 196
Uniparental Disomy and Imprinting 197
Somatic Crossing-Over 201
Meiotic Drive 202
Mitochondrial Inheritance 203
References 207
Appendices
Ultrasound and Prenatal Diagnosis 219
Overlapping Normal Distributions 224
Length of Prometaphase Chromosome Segments 227
Index 239