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v. 1 ISBN 9780306396014
内容説明
During the last few years the science of human genetics has been expanding almost explosively. Original papers dealing with different aspects of the subject are appearing at an increasingly rapid rate in a very wide range of journals, and it becomes more and more difficult for the geneticist and virtually impossible for the non geneticist to keep track of the develop ments. Furthermore, new observations and discoveries relevant to an overall understanding of the subject result from investigations using very diverse techniques and methodologies and originating in a variety of different disciplines. Thus, investigations in such various fields as enzymology, immunology, protein chemistry, cytology, pediatrics, neurology, internal medicine, anthropology, and mathematical and statistical genetics, to name but a few, have each contributed results and ideas of general significance to the study of human genetics. Not surprisingly it is often difficult for workers in one branch of the subject to assess and assimilate findings made in another. This can be a serious limiting factor on the rate of progress. Thus, there appears to be a real need for critical review articles which summarize the positions reached in different areas, and it is hoped that "Advances in Human Genetics" will help to meet this requirement. Each of the contributors has been asked to write an account of the position that has been reached in the investigations of a specific topic in one of the branches of human genetics."
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v. 11 ISBN 9780306406881
目次
1 The Pi Polymorphism: Genetic, Biochemical, and Clinical Aspects of Human ?1-Antitrypsin.- Historical Review.- Pi Variants.- Nomenclature of Genetic Variants.- Techniques for Identification.- Characterization of Pi Variants.- Population Studies of the Pi Alleles.- Linkage and Mapping for the Pi Locus.- Selective Mechanisms.- Biochemical Aspects.- Microheterogeneity.- Antigenicity.- Inhibition of Proteases.- ?1-Antitrypsin and the Clotting System.- ?1-Antitrypsin and the Immune Response.- Biochemical Characterization of Genetic Variants of ?1-Antitrypsin.- Metabolism of ?1-Antitrypsin.- Synthesis and Distribution.- Concentration of ?1-Antitrypsin in Plasma.- Association between Pi Types and Disease.- Pulmonary Disease.- Liver Disease.- Primary Liver Carcinoma.- Other Malignancies.- Kidney Disease.- Rheumatoid Arthritis.- Miscellaneous Diseases.- Chromosome Aberrations.- Protease Inhibitor Systems and Disease Mechanisms.- Interrelated Systems.- Leukocyte Proteases and ?1AT.- Unresolved Problems.- References.- 2 Segregation Analysis.- Mathematical Formulation of Genetic Models.- Joint Genotypic Distribution of Mating Individuals.- Relationship between Phenotype and Genotype.- Mode of Inheritance.- Sampling Scheme.- The Likelihood Method.- Likelihood of Randomly Sampled Data.- Likelihood When Sampling via Selected Probands.- Parameter Estimation and Testing Hypotheses.- Examples of Segregation Analysis.- Segregation of Dopamine-?-hydroxylase (DBH) Activity in Selected Families.- Segregation of Hypercholesterolemia in a Large Pedigree.- Segregation of Phenylthiocarbamide (PTC) Taste Sensitivity.- Segregation of Immunoglobulin E (IgE) Levels.- Conclusion.- Appendix: Notes on Computational Methods.- References.- 3 Genetic, Metabolic, and Biochemical Aspects of the Porphyrias.- Tetrapyrroles.- Structure of Porphyrins.- Physicochemical Properties of Porphyrins.- Enzymes and Intermediates of the Heme Biosynthetic Pathway.- Formation of ?-Aminolevulinic Acid (ALA).- Formation of Porphobilinogen (PBG).- Formation of Uroporphyrinogen (UROgen).- Formation of Coproporphyrinogen (COPROgen).- Formation of Protoporphyrinogen (PROTOgen).- Formation of Protoporphyrin IX (PROTO IX).- Formation of Heme.- Regulation of Enzymes of Heme Biosynthesis.- Liver.- Erythroid Cells.- Other Cell Types.- Classification of the Human Porphyrias.- Congenital Erythropoietic Porphyria (CEP).- Erythropoietic Protoporphyria (EPP).- Acute Intermittent Porphyria (AIP).- Hereditary Coproporphyria (HCP).- Variegate Porphyria (VP).- Porphyria Cutanea Tarda (PCT).- Acute Hepatic Porphyria Resulting from ALA Dehydratase Deficiency.- Porphyria in Association with Other Disorders.- Hereditary Porphyrias in Animals.- References.- 4 The Molecular Genetics of Thalassemia.- The New Genetics.- Globin Gene Organization in the Cellular DNA.- The Organization and Structure of Human Globin Genes.- Globin Gene Expression and mRNA Biogenesis.- The Nature of Thalassemias.- ?-Thalassemias.- ?-Thalassemias.- Thalassemias Associated with Structurally Abnormal Globins.- DNA Polymorphisms in the ?-like Globin Gene Cluster.- Prenatal Diagnosis of Hemoglobin Disorders by DNA Analysis.- Additional Approaches to the Correlation of Gene Structure and Function.- Summary and Conclusions.- References.- 5 Advances in the Treatment of Inherited Metabolic Diseases.- Metabolic Manipulation.- Dietary Restriction.- Substrate Depletion Techniques.- Surgical Bypass Procedures.- Metabolic Inhibition.- Product Replacement.- Gene Product Therapy.- Cofactor Supplementation.- Enzyme Induction/Feedback Repression.- Allotransplantation.- Enzyme Replacement Therapy.- Rationale.- Early Trials of Enzyme Replacement.- Requisites for Enzyme Replacement Therapy.- Human and Animal Trials-Replacement with Purified Enzymes.- Human Trials with Purified Homologous Enzymes.- Animal Model Trials-In Vivo Fate of Purified Enzymes.- Therapeutic Considerations.- Enzyme Delivery Strategies.- Carrier Mediated Delivery.- Clinical Application of Enzyme Delivery Strategies.- Prospects for Enzyme Replacement.- Gene Therapy.- Production of Human Gene Products.- Gene Transfer.- References.- Addenda.
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v. 12 ISBN 9780306409493
目次
1 Genetic Disorders of Collagen Metabolism.- Collagen and Procollagen.- Collagen Chains.- Collagen Types.- Distribution.- Classification.- Collagen Genes.- Biosynthesis of Collagen.- Extracellular Processing.- Molecular Packing.- Cross-linking.- Degradation.- Disorders of Collagen Metabolism.- The Ehlers-Danlos Syndrome.- The Marfan Syndrome.- Cutis Laxa.- The Osteochondrodysplasias.- Concluding Remarks.- References.- 2 Advances in Genetics in Dermatology.- Disorders of Keratinization.- Epidermal Structure, Replication, and Keratinization.- Disorders of the Epidermis.- Disorders of the Epidermal-Dermal Junction.- Epidermolysis Bullosa.- Neurocutaneous Disorders.- Neurofibromatosis.- Tuberous Sclerosis.- Metabolic Disorders.- Acrodermatitis Enteropathica.- Refsum Syndrome.- Richner-Hanhart Syndrome.- Tumors in Genetic Diseases.- Basal Cell Nevus Syndrome.- Xeroderma Pigmentosum.- Epidermodysplasia Verruciformis.- Disorders of Hair.- Structure, Growth, and Keratinization of Hair.- Diseases of Hair.- References.- 3 Haptoglobin: The Evolutionary Product of Duplication, Unequal Crossing Over, and Point Mutation.- Historical.- Detection and Quantitation.- Major Phenotypes.- Occurrence in Physiological Fluids.- Characterization of Glycoprotein Structure.- Subunit Isolation.- Amino Acid Composition.- Carbohydrate Composition.- Molecular Weight.- Isoelectric Point.- Primary Structure.- Chain Arrangements.- Polymer Characterization.- Homology with the Chymotrypsinogen Family of Serine Proteases.- Reaction of Haptoglobin with Hemoglobin.- Characterization and Stoichiometry.- Binding Site on Hemoglobin.- Binding Site on Haptoglobin.- Species Specificity of Hemoglobin Binding.- Haptoglobin from Species Other Than Human.- Haptoglobin Variants.- Hp 2-1 Modified.- Hp 2-1 (Trans), Ha, and Ab.- Hp Carlsberg.- Hp P, H, L, B, and D.- Hp Johnson.- Hp , the Silent Allele.- ?-Chain Variants of Human Haptoglobin.- Immunologic Aspects of Haptoglobin.- Biosynthesis and Catabolism.- Haptoglobin in Disease.- Gene Characterization.- Chromosomal Localization.- Linkage Studies.- Population Genetics.- Selection for Haptoglobin Alleles.- The Haptoglobin Gene.- References.- 4 Models of Human Genetic Disease in Domestic Animals.- Congenital Heart Disease.- Background and Hypotheses in Man.- Animal Models of Congenital Heart Disease.- Lysosomal Storage Diseases.- Background, Animal Models.- The Gangliosidoses.- The Mucopolysaccharidoses.- Genetic Disorders of the Immune Systems.- General Description of the Systems.- Animal Models of Immunodeficiency Disease.- Concluding Remarks.- References.- 5 Mapping the Human Genome, Cloned Genes, DNA Polymorphisms, and Inherited Disease.- The Impact of Recombinant DNA on Human Genetics.- Constructing the Molecular Map.- Assignment of Cloned Genes.- Undefined DNA Segments as Genetic Markers.- DNA Polymorphisms as Genetic Markers.- Constructing the Genetic Map.- Close Linkage.- Assignment of Genes to Chromosomes and Regions of Chromosomes.- Dissection and Mapping of Human Disease.- Mapping Inherited Disease.- Genetic Dissection of Disease.- The Human Gene Maps.- Markers for Mapping the Human Genome.- The 24 Nuclear Gene Maps.- Unassigned Linkage Groups.- The Mitochondrial Gene Map.- Comparative Genetics of the Human Genome.- Merging the Genetic and Molecular Maps.- Conclusions.- Appendix A. Chromosome Assignment of Human Gene Markers.- Appendix B. Alphabetical Listing of Human Genes Assigned to Chromosomes.- Appendix C. Linkage Groups Not Assigned to Chromosomes.- References.- Addendum.
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v. 17 ISBN 9780306428562
目次
1 Chorionic Villus Sampling.- Early Trophoblast Development.- Historical Perspectives.- Techniques of Chorionic Villus Sampling.- Overview.- Transcervical Catheter Aspiration.- Transcervical Endoscopy.- Transcervical Biopsy Forceps.- Transabdominal Sampling.- Sample Processing.- Chromosomal Analysis.- Direct Karyotype Analysis.- Karyotype Analysis of Cultured Villi.- Results of Karyotype Analysis.- Metabolic Analysis of Chorionic Villi.- Overview.- Metabolic Disorders Diagnosed.- Pitfalls of Metabolic Diagnosis.- DNA Analysis of Chorionic Villi.- Overview.- DNA Disorders Diagnosed.- Pitfalls in DNA Diagnosis of Chorionic Villi.- Contraindications to Chorionic Villus Sampling.- Safety of Chorionic Villus Sampling.- Future Applications.- References.- 2 The Molecular Genetics of Hemophilia A and B in Man: Factor VIII and Factor IX Deficiency.- Hemophilia A. Factor VIII Gene.- Cloning and Characterization of Factor VIII Gene and the Deduced Protein Sequence.- Mutations in the Factor VIII Gene in Hemophilia A.- DNA Polymorphisms in the Factor VIII Gene.- Hemophilia B. Factor IX Gene.- Cloning and Characterization of Factor IX Gene.- Mutations in the Factor IX Gene in Hemophilia B.- DNA Polymorphisms in the Factor IX Gene.- X-Chromosome Mapping of Factor VIII and IX Genes.- Lessons from the Study of the Molecular Genetics of Hemophilia.- References.- 3 Cloning of the Duchenne/Becker Muscular Dystrophy Locus.- Background Information: Clinical Aspects of DMD.- Background Information: Biochemical Aspects of DMD.- Chromosomal Map Position.- Strategies to Approach the Gene.- Detection of Deletions in DMD and BMD Patients.- Identification of the DMD Transcript.- The DMD Locus.- The DMD/BMD Protein.- Future Prospects.- References.- 4 Trisomy 21: Molecular and Cytogenetic Studies of Nondisjunction.- Scope of the Problem.- Problems to Be Addressed.- Correct and Complete Ascertainment of Parental Origin of Nondisjunction.- The Maternal Age Conundrum: Is the Maternal Age Effect due to Increased Production of Abnormal Eggs or Decreased Destruction of Abnormal Embryos?.- Identification of Couples at High Risk for Trisomy 21 Offspring..- Is There a Correlation between Crossing Over and Nondisjunction on Chromosome 21?.- The Effect of the Parental Origin of Trisomy on the Phenotype of the Conceptus.- Molecular Cytogenetic Organization of Chromosome 21: Implications for Studies of Nondisjunction.- Organization of DNA Sequences on the Short Arms of the Acrocentric Chromosomes.- The Interspersed 724 Family on the Acrocentric Short Arms.- Isolation of a Large Number of Polymorphic Single-Copy DNA Probes That Span the Long Arm of Chromosome 21.- Lessons from a Pilot Study.- An Experimental Design to Answer the Basic Questions Related to Nondisjunction.- Complete Ascertainment of Parental Origin and Meiotic Stage of Nondisjunction.- The Maternal Age Conundrum: Is the Maternal Age Effect due to Increased Production of Abnormal Eggs or Decreased Destruction of Abnormal Embryos?.- Identification of Couples at High Risk for Trisomy 21 Offspring.- Is There a Correlation between Crossing Over and Nondisjunction on Chromosome 21?.- The Effect of the Parental Origin of Trisomy on the Phenotype of the Conceptus.- Overview.- References.- 5 Molecular Genetics of Human Salivary Proteins and Their Polymorphisms.- Salivary Protein Polymorphisms.- Salivary Amylase (Amy).- B12-Binding Protein (Rs).- Salivary Acid Phosphatase (s-AcP).- Genetic Polymorphisms of Proline-Rich Proteins (PRPs).- Salivary Peroxidase (SAPX).- Parotid Basic Proteins (Pb).- Other Polymorphisms in Human Saliva.- Molecular Genetic Studies.- The Proline-Rich Protein (PRP) Gene Family.- Statherin.- Amylase Gene Family.- Cystatin Gene Family.- References.- Addendum.
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v. 18 ISBN 9780306431302
目次
1 The Molecular Basis of HLA-Disease 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.- Ataxia-Telangiectasia.- 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.- Classification of Overgrowth.- Cellular Aspects of Overgrowth.- Neoplasia and Overgrowth.- Infants of Diabetic Mothers.- Diabetic Macrosomia.- Congenital Malformations.- Neonatal Small Left Colon Syndrome.- Preventive Measures.- Infant Giants.- Beckwith-Wiedemann Syndrome.- Etiology.- Pathogenesis.- Infant Mortality.- Growth.- Performance and Central Nervous System.- Craniofacial Features.- Visceromegaly.- Histopathology.- Cardiovascular Anomalies.- Other Abnormalities.- Neoplasms.- Laboratory Findings.- Prenatal Diagnosis.- Differential Diagnosis.- Laboratory Aids.- Hemihyperplasia (Hemihypertrophy).- Clinical Manifestations.- Neoplasms.- Differential Diagnosis.- Laboratory Aids.- Sotos Syndrome.- Growth and Skeletal Findings.- Performance and CNS Abnormalities.- Craniofacial Features.- Other Findings.- Neoplasms.- Laboratory Findings.- Differential Diagnosis.- Nevo Syndrome.- Bannayan-Riley-Ruvalcaba Syndrome.- Growth.- Performance.- Craniofacial Features.- Skin.- Gastrointestinal System.- Neoplasms.- Skeletal System.- Other Abnormalities.- Differential Diagnosis.- Laboratory Aids.- Weaver Syndrome.- Growth.- Performance and CNS.- Craniofacial Features.- Limbs.- Other Findings.- Neoplasms.- Differential Diagnosis.- Marshall-Smith Syndrome.- Growth, Performance, and Natural History.- Craniofacial Features.- Skeletal System.- Other Abnormalities.- Differential Diagnosis.- Elejalde Syndrome.- Simpson-Golabi-Behmel Syndrome.- Growth.- Central Nervous System.- Craniofacial Abnormalities.- Limb Anomalies.- Skeletal System.- Cardiovascular Anomalies.- Genitourinary System.- Gastrointestinal Tract.- Skin.- Other Findings.- Differential Diagnosis.- Proteus Syndrome.- Growth.- Performance.- Tumors and Neoplasms.- Skin.- Other Findings.- Differential Diagnosis.- Miscellaneous Conditions with Overgrowth.- Carpenter Syndrome.- Congenital Hypothyroid Gigantism.- Congenital Muscular Hypertrophy, Hypertonia, and Developmental Retardation.- Cranioectodermal Dysplasia.- Ectodermal Overgrowth Syndrome.- Infants of Psoriatic Mothers.- Lipodystrophy.- Osteochondrodysplasia with Hypertrichosis.- Overgrowth with Transposition of the Great Vessels.- Pallister-Killian Syndrome: Mosaic Tetrasomy 12p.- Trisomy 8 Mosaicism.- Stevenson Syndrome.- References.- 5 Genetics of Growth Hormone and Its Disorders.- Human Growth Hormone and Related Hormones.- Human Growth Hormone.- Human Chorionic Somatomammotropin Hormone.- Human Prolactin Hormone.- Human Growth Hormone Gene Cluster.- Genetic Components.- Gene Structure and Biosynthesis.- Evolution of the hGH Gene Cluster.- Restriction Fragment Length Polymorphisms.- Regulation of Expression of the hGH Gene Cluster.- Genetic Disorders of hGH and hCSH Synthesis or Action.- Background.- Diagnosis of hGH Deficiency.- Confirmatory Tests of hGH Deficiency.- Etiology of hGH Deficiency.- Isolated hGH Deficiency.- Bioinactive hGH.- Laron Dwarfism.- Panhypopituitary Dwarfism.- African Pygmies.- Developmental Anomalies and Genetic Syndromes.- Isolated hCSH Deficiency.- Mouse Models of hGH Deficiency.- Recombinant hGH.- Treatment.- Use of GH as a Biological Marker.- Gene Therapy.- Future Studies on hGH and Related Genes.- Gene Regulation and Molecular Basis of Hormonal Effects.- Treatment of Genetic Forms of hGH Deficiency.- References.- Addenda.
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v. 19 ISBN 9780306432989
目次
1 The Lethal Osteochondrodysplasias.- 2 Mutations in Type I Procollagen Genes That Cause Osteogenesis Imperfecta.- 3 Structural Defects in Inherited and Giant Platelet Disorders.- 4 Genetic Aspects of Immunoglobulin A Deficiency.- 5 Oxidative Phosphorylation Diseases: Disorders of Two Genomes.- Addendum.
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v. 20 ISBN 9780306439988
内容説明
Continues the annual series presenting review articles designed to keep specialists abreast of advances in other disciplines working on human genetics. The five reviews cover genital adrenal hyperplasia, amyloidosis, Huntington's disease, cystic fibrosis, and von Recklinghausen neurofibromatosis. An
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v. 21 ISBN 9780306442926
内容説明
The series comprises critical review articles that keep researchers in different areas of the field informed on the latest research results, ideas, and advances. Contributions to Volume 21 focus on: the clinically diverse diseases classified as peroxisomal disorders; X-linked immunodeficiencies; gen
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v. 22 ISBN 9780306448454
内容説明
From reviews of previous volumes in the series: 'Extremely valuable...thoroughly recommended.'-Annals of Human Genetics 'The most lucid and stimulating discussions of the topic to be found anywhere.'-American Scientist
目次
- Genetic Disorders of Pigmentation
- R.A. Sprintz, V.J. Hearing, Jr.. High-resolution Replication Bands Compared with Morphologic G and Rbands
- R. Drouin, C.L. Richer. Molecular Genetics of Charcot-Marie-Tooth Neuropathy
- B.B. Roa, J.R. Lupski. Marfau Syndrome and Other Microfibrillar Diseases
- H.C. Dietz, et al. Nonisotopic In Situ Hybridization Clinical Cytogenetics and Gene Mapping Applications
- M. Adinolfi, J. Crolla. Index.
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