Analysis of Human Genetic Linkage
(revised edition)
Johns Hopkins University Press, Baltimore, 1991
Jurg Ott
TABLE OF CONTENTS
- Basic Genetics and Cytogenetics
- Mendelian Inheritance
- Recombination and Genetic Linkage
- Linkage Groups and Synteny
- Crossing Over and Map Distance
- Map Functions
- The Human Chromosomes
- Genes and Genetic Polymorphisms
- Nomenclature and Characterization of Genes
- The Degree of Polymorphism
- Blood Cell Antigens
- Blood Proteins
- DNA Polymorphisms and the Genome Project
- Variants in Chromosome Morphology
- Marker Coverage of the Human Genome
- Aspects of Statistical Inference
- Likelihood
- Maximum Likelihood Estimation
- Statistical Properties of Maximum Likelihood Estimates
- Significance Tests
- The Likelihood Method
- Interval Estimation
- Bayes Theorem
- Methods of Linkage Analysis
- A Brief Historical Review
- Prior and Posterior Distribution of Theta
- The Lod Score Method
- Testing for Linkage
- Equivalent Observations
- Exact Tests in Simple Family Types
- Multiple Comparisons
- The Likelihood of Family Data
- Nonparametric Approaches
- Some Special Methods
- The Informativeness of Family Data
- Measures of Informativeness
- Expected Lod Score
- Expected Information
- Mating Type
- Double Intercross with Two Alleles
- Double Intercross with More Than Two Alleles
- Phase-known Double Backcross
- Phase-unknown Double Backcross with Two Offspring
- Phase-unknown Double Backcross with More Than Two Offspring
- The Number of Observations Required to Detect Linkage
- Multipoint Linkage Analysis
- Notation and Terminology
- Three-point Analysis
- Phase-unknown Triple Backcross with Two Offspring
- Interference
- Multilocus Map Functions
- Ordering Loci
- Mapping under Complete Inteference
- Other Methodologic Issues
- Penetrance
- Definition of Penetrance
- The Cost of Incomplete Penetrance
- Estimating Penetrance and Recombination
- Age-dependent Penetrance
- The Factors Influencing Penetrance
- Quantitative Phenotypes
- Numerical and Computerized Methods
- Calculating Lod Scores Analytically
- The Elston-Stewart Algorithm
- Computer Programs for Linkage Analysis
- Special Applications of Linkage Programs
- Linkage Utility Programs
- Paternity Calculations
- Computer Simulation Methods
- Variability of the Recombination Fraction
- Male and Female Recombination Fractions
- Recombination Fraction and Age
- Heterogeneity between Classes of Families
- Heterogeneity due to a Mixture of Families
- Hierarchical and Mixed Models of Heterogeneity
- Covariates in the Test for Admixture
- Inconsistencies
- Ascertainment Bias
- Misclassification
- Misspecification of Penetrance
- Misspecification of Heterogeneity
- Pedigree Errors
- Other Model Misspecifications
- Linkage Analysis with Disease Loci
- Genetic Involvement
- Disease Phenotype
- Mode of Inheritance
- Associations between Phenotypes and Alleles
- Candidate Loci
- Exclusion Mapping
- Genetic Risks
- Irregular Segregation
- Planning a Linkage Analysis