Advances in Human Genetics: Volume 20

ISBN-13: 9781468459609 / Angielski / Miękka / 2012 / 308 str.

Harry Harris; Kurt Hirschhorn

Recenzje

From reviews of earlier volumes: `. . . extremely valuable . . . thoroughly recommended.
Annals of Human Genetics

`The publisher and authors are to be congratulated on bringing so much biochemical material relating to human disease together so efficiently on an annual basis.'
Journal of Applied Biochemistry

Spis treści

1 Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.- Introduction: Adrenal Steroidogenesis.- Cholesterol Synthesis, Uptake, and Storage.- Cytochrome P450.- P450scc.- Transport of Electrons to P450scc: Adrenodoxin Reductase and Adrenodoxin.- 3ß-Hydroxysteroid Dehydrogenase/?5 — ?4 Isomerase.- P450cl7.- Electron Transport to P450cl7: P450 Reductase.- P450c21.- P450c11.- The Physiology of 21-Hydroxylase Deficiency.- The Manifestations of 21-Hydroxylase Deficiency.- Clinical Forms of 21-Hydroxylase Deficiency.- Incidence.- Genetics of the 21-Hydroxylase Locus.- HLA Linkage.- 21-Hydroxylase Genes.- C4 Genes.- Other Genes in the 21-Hydroxylase Locus.- Southern Blotting Studies in CAH.- Mapping of P450c21 Genes in Normals and in CAH.- Gene Conversions.- Genetic Alterations in the C4 Genes Associated with CAH.- Strategies for Southern Blotting.- Gene Defects Detectable by Southern Blotting.- No Detectable Abnormalities of the Functional P450c21B Genes.- Abnormalities in the P450c21B Gene Detectable by Southern Blotting.- Common Deletions.- Rare Deletions.- Large Gene Conversions.- Frequency of Lesions Detectable by Southern Blotting.- Pulsed-Field Gel Electrophoresis.- Point Mutations in CAH.- Polymorphisms in the P450c21B Gene.- All Known Deleterious P450c21B Point Mutations Are Actually Small Gene Microconversions.- Effects of Known Point Mutations on 21-Hydroxylase Activity.- Prenatal Diagnosis of CAH.- References.- 2 Genetic Aspects of Amyloidosis.- Amyloidosis: Historical Background.- Amyloidosis: Definition.- Chemical Classification of the Amyloid Syndromes.- Transthyretin-Associated Amyloidosis.- Historical Background.- TTR: Biochemistry and Molecular Biology.- TTR-Amyloidosis: Classification and General Considerations.- TTR Variants Presenting Primarily with Polyneuropathy (FAP).- Disorders in Which TTR-Amyloid Is Deposited Primarily in the Heart [Familial Amyloid Cardiomyopathy and Senile Systemic (Cardiac) Amyloidosis].- TTR Variants Presenting with Both Prominent Cardiomyopathy and Neuropathy.- Other TTR-Amyloidoses, TTR Variants, Intron Polymorphisms, and the Origin of TTR Mutations.- Mechanisms of TTR-Amyloidogenesis.- Familial Mediterranean Fever and Other Hereditary Amyloidoses of the Amyloid A (AA) Type.- Clinicopathologic Features.- Ethnic Distribution.- Genetics of FMF.- FMF and Amyloidosis.- Pathogenesis.- Pathogenesis of AA Amyloid Deposition.- Non-FMF AA Amyloidosis.- ACYS (Cystatin C) Hereditary Cerebral Hemorrhage with Amyloidosis: (HCHWA)-Iceland.- Clinicopathologic Features.- Genetics.- Molecular Pathology.- Molecular Genetics.- Aß Amyloidosis: Dutch-Type HCHWA, Alzheimer’s Disease, and Down Syndrome.- Dutch-Type Hereditary Cerebral Hemorrhage with Amyloidosis.- Alzheimer’s Disease and Down Syndrome.- AGEL: Familial Amyloidosis of the Finnish Type.- Clinicopathologic Features.- Molecular Pathology.- AAPOAI: Familial Amyloid Polyneuropathy, Iowa-(Van Allen).- Clinicopathologic Features.- Molecular Pathology.- AC AL: Multiple Endocrine Neoplasia.- Miscellaneous Hereditary Amyloidoses.- The Treatment of Hereditary Forms of Amyloidosis.- Conclusions.- References.- 3 Huntington’s Disease.- Clinical Characteristics of HD.- Neuropathology and Neurochemistry.- Epidemiology.- A Molecular Genetic Approach to Investigation of HD.- Success of the Linkage Strategy.- Defining the HD Candidate Region.- Isolation of DNA Probes from the Candidate Region.- Fine Structure Physical Mapping of the Candidate Region.- Genetic Mapping of the Candidate Region.- Positioning of the HD Gene by Apparent Crossover Events.- Linkage Disequilibrium.- What Is the HD Gene?.- References.- 4 Biochemical and Molecular Genetics of Cystic Fibrosis.- Early Attempts to Identify Biochemical Markers for CF.- Cellular Metachromasia.- Cystic Fibrosis Factors.- Cellular Drug Resistance.- Protease Activity.- Lysosomal Hydrolases.- Microvillar Enzymes.- Calcium and Mitochondria.- Beta-Adrenergic Responses.- Epithelial Ion Transport.- Studies on Sweat Glands.- Studies with Respiratory Epithelia.- Studies on Cultured Sweat Gland Epithelial Cells.- Studies on Cultured Respiratory Epithelial Cells.- Single-Channel Recordings.- CF Gene Mapping.- Negative Results.- Localization to Chromosome 7.- Identification of the CF Gene.- Cloning Strategies.- Cloning of the CF Gene.- The CF Gene Product (CFTR).- Prediction from Primary Sequence.- Mutation Screening.- Expression of Recombinant CFTR.- Genotype and Phenotype.- Pancreatic Function.- Meconium Ileus.- Sex Difference.- Lung Disease.- Explanations for High CF Gene Frequency.- Genetic Diagnosis.- Tests Based on Linked DNA Markers.- Direct Detection of Mutation.- Concluding Remarks.- References.- 5 Molecular Genetics of von Recklinghausen Neurofibromatosis.- Clinical Features.- Genetics of NF1.- Biochemical and Neurobiological Aspects.- Molecular Genetics.- Linkage Studies.- Physical Mapping.- Cloning Candidate Genes.- The NF1 Gene.- Future Directions.- References.- Addenda.