Advances in Human Genetics Volume 20 [Paperback]

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.- 3?-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) Amyloidol£+