Advances in Human Genetics 14 [Paperback]

1 Cytogenetics of Pregnancy Wastage.- Estimation of Pregnancy Wastage.- Evaluation of the Incidence of Chromosome Abnormalities.- Spontaneous Abortions.- Induced Abortions.- Perinatal Deaths.- Types of Chromosome Abnormalities.- Autosomal Trisomies and Monosomies.- Sex Chromosome Aneuploidies.- Errors of Chromosome Haploid Sets.- Mosaicism.- Structural Anomalies.- Animal Model for Meiotic Nondisjunction and Experimentally Induced Monosomy and Trisomy.- Model for the Study of Meiotic Malsegregation and Preferential Segregation of Rb Chromosomes.- Model of Multiple Rb Heterozygosity for Production of High Rates of First Meiotic Anaphase Nondisjunction and Evaluation of Prenatal Losses.- Developmental Profiles of Monosomy and Trisomy: Principles and Mechanisms of Abnormal Development.- Perspectives for Studies in the Mouse.- Conclusion.- References.- 2 Mutation in Human Populations.- Classes of Mutation.- Classification by Phenotypic Effect.- Classification by Genomic Effect.- Number and Incidence of Human Mendelian Traits.- Mutation Rate Estimates.- Methods.- Results.- Some Special Problems.- Parental Age Effects.- Sex Differences in Mutation Rates.- Heterogeneity of Mutation Rates.- Population Monitoring.- Use of Mutation Rates in Genetic Counseling.- Population Kinetics of Mutation.- Equilibrium between Mutation and Selection.- The Rarity of Complete Recessivity.- Effects of a Change of Mutation Rate and of Environment.- The Effect of a Single Burst of Mutations.- Assessing the Population Mutation Burden.- The Mutation Load and Mutation Impact.- The Mutation Component of Genetic Disease.- Mutation and Evolution.- The Importance of Mutation Rate in Evolution.- Evolutionary Adjustment of Mutation Rates.- The Human Population.- References.- 3 Genetic Mutations Affecting Human Lipoprotein Metabolism.- General Review.- Pathway of Lipoprotein Metabolism.- Apoprotein Structure and Function.- Mutations in the Pathway of Lipoprotein Metabolism.- Mutations in LDL Receptor Patl“ê