Advances in Human Genetics Volume 18 [Paperback]

1 The Molecular Basis of HLADisease Association.- Function and Nomenclature.- Class 1.- Class III.- Class II.- Genomic Organization.- Class II.- Whole MHC Complex.- Class II Sequence Polymorphism.- Structural Consideration.- HLA and Disease.- Hybrid Molecules and Transassociation.- Disease-Associated Class II Sequences.- Class II Disease-Associated Sequences Are Common in Normal Individuals.- Diabetes Mellitus.- Rheumatoid Arthritis.- Pemphigus Vulgaris.- Other Diseases.- Conclusions.- Mechanisms of Class II-Mediated Disease Susceptibility.- Insulin-Dependent Diabetes Mellitus.- Rheumatoid Arthritis/Pemphigus Vulgaris.- HLA-B27-Associated Disease.- References.- 2 Chromosome Instability Syndromes.- Clinical Descriptions.- Population Prevalence.- Dermatologic Abnormalities.- Immune Dysfunction.- Neurological Abnormalities.- Predisposition to Cancer.- Other Clinical Findings.- Cytogenetic Findings.- Spontaneous Chromosome Instability.- Spontaneous Chromosome Damage in Different Cell Types and Nonrandom Involvement of Particular Chromosomes.- Induced Chromosome Aberrations.- Biological Factors.- Heterogeneity and Complementation.- Heterozygote Detection.- Prenatal Diagnosis.- Molecular Considerations.- Xeroderma Pigmentosum.- AtaxiaTelangiectasia.- Bloom Syndrome.- Fanconi Anemia.- Conclusion.- References.- 3 Lacticacidemia: Biochemical, Clinical, and Genetic Considerations.- The Biochemical Basis of Lacticacidemia.- Biochemistry of the Pyruvate Dehydrogenase Complex.- Defects in the Pyruvate Dehydrogenase Complex.- Pyruvate Carboxylase Deficiency.- Respiratory Chain Defects.- Defects Associated with Ragged Red Fibers.- Defects That Are Reproducible in Fibroblast Cultures.- Complex Subunit Composition in Respiratory Chain Deficiencies.- The Genetics of Lacticacidemia.- References.- 4 A Comprehensive and Critical Assessment of Overgrowth and Overgrowth Syndromes.- Overgrowth in Pediatric and Genetic Perspective.- Mythology of Overgrowth.- Infant Macrosomia.- ClassificalSC