Medical Genetics at a Glance.
Pritchard, Dorian J.
Medical Genetics at a Glance. - 1st ed. - 1 online resource (233 pages) - New York Academy of Sciences Series . - New York Academy of Sciences Series .
Cover -- Title page -- Copyright page -- Contents -- Preface to the first edition -- Preface to the third edition -- Acknowledgements -- List of abbreviations -- Part 1 : Overview -- 1: The place of genetics in medicine -- The case for genetics -- Genes in development -- Genotype and phenotype -- Genetics in medicine -- The application of genetics -- Part 2 : The Mendelian approach -- 2: Pedigree drawing -- Overview -- The medical history -- Rules for pedigree diagrams -- The practical approach -- Use of pedigrees -- 3: Mendel's laws -- Overview -- The principle of unit inheritance -- The principle of dominance -- The principle of segregation -- Example -- The principle of independent assortment -- Example -- The test-mating -- Matings between double heterozygotes -- Biological support for Mendel's laws -- Exceptions to Mendel's laws -- 1. Sex-related effects -- 2. Mitochondrial inheritance -- 3. Genetic linkage -- 4. Polygenic conditions -- 5. Overdominance, codominance, variable expressivity and incomplete penetrance -- 6. Genomic imprinting -- 7. Dynamic mutation -- 8. Meiotic drive -- Conclusion -- 4: Principles of autosomal dominant inheritance and pharmacogenetics -- Overview -- Rules for autosomal dominant inheritance -- Example -- Estimation of risk -- Estimation of mutation rate -- Pharmacogenetics -- Debrisoquine hydroxylase deficiency (AR) -- Porphyria variegata (AD) -- G6PD deficiency (X-linked R) (see Chapter 11) -- N-acetyl transferase deficiency (AR) -- Pseudocholinesterase deficiency (AR) -- Halothane sensitivity, malignant hyperthermia (genetically heterogeneous) -- Thiopurine methyltransferase deficiency (ACo-D) -- 5: Autosomal dominant inheritance, clinical examples -- Overview -- Disorders of the fibroblast growth factor receptors -- Achondroplasia -- Marfan syndrome (MFS) -- Familial hypercholesterolaemia (FH). Dentinogenesis imperfecta 1 (DGI) -- Otosclerosis 1 (OTSC1) -- Adult polycystic kidney disease (APKD, PKD) -- Multiple hereditary exostoses (EXT) -- 6: Autosomal recessive inheritance, principles -- Overview -- Rules for autosomal recessive inheritance -- Example: albinism -- Estimation of risk -- Example: congenital deafness -- 7: Consanguinity and major disabling autosomal recessive conditions -- Overview -- Management issues -- Consanguineous matings -- Incestuous matings -- Brother-sister matings -- Parent-child matings -- Risk for offspring -- First cousin marriages -- Mental handicap -- Oculocutaneous albinism -- Recessive blindness -- Retinitis pigmentosa (RP) -- Severe congenital deafness -- Connexin 26 defects (CX26) -- Pendred syndrome (PDS) -- 8: Autosomal recessive inheritance, life-threatening conditions -- Overview -- Cystic fibrosis (CF) -- Tay-Sachs disease, GM2 gangliosidosis -- Phenylketonuria (PKU) -- Spinal muscular atrophy (SMA) -- 9: Aspects of dominance -- Overview -- Codominance (Co-D), the ABO blood groups -- Incomplete dominance, overdominance and heterosis -- Incomplete penetrance -- Delayed onset -- Variable expressivity -- Neurofibromatosis type 1 (NF1), Von Recklinghausen disease -- 10: X-linked and Y-linked inheritance -- Overview -- Rules of X-linked recessive inheritance -- Estimation of risk for offspring -- X-linked dominant disorders -- Rules for inheritance -- Y-linked or holandric inheritance -- Rules for inheritance -- Pseudoautosomal inheritance or 'partial sex linkage' -- Rules for inheritance -- Sex limitation and sex influence -- 11: X-linked inheritance, clinical examples -- Introduction -- Haemophilia A (HbA), classic haemophilia -- Red and green colour blindness -- Duchenne muscular dystrophy (DMD) -- Becker muscular dystrophy (BMD) -- Fragile X syndrome (FRAX-A [and FRAX-E]). Vitamin D-resistant rickets, hypophosphataemic rickets -- Hereditary motor and sensory neuropathy (HMSN), Charcot-Marie-Tooth disease -- Incontinentia pigmenti (IP) -- Barth syndrome, X-linked cardioskeletal myopathy, endocardial fibroelastosis -- Rett syndrome -- 12: Mitochondrial inheritance -- Overview -- Mitochondrial disorders -- Rules of mitochondrial inheritance -- Examples -- Myoclonic epilepsy with ragged red fibre disease (MERRF) -- Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) -- Neurodegeneration, ataxia and retinitis pigmentosa (NARP) -- Leigh disease -- Leber hereditary optic neuropathy (LHON) -- Maternally transmitted ototoxic deafness -- Mitochondrial RNA -- Medical issues -- 13: Risk assessment in Mendelian conditions -- Overview -- Risk assessment -- Bayes' theorem -- Application of Bayes' theorem -- X-linked recessive disease -- Autosomal recessive disease -- Autosomal dominant of incomplete penetrance -- Isolated cases -- Empiric risks -- Part 3 : Basic cell biology -- 14: The cell -- Overview -- The plasma membrane -- The nucleus -- The cytoplasm -- The secretion pathway -- Endocytosis -- Cell junctions -- Medical issues -- 15: The chromosomes -- Overview -- Chromatin structure -- Chromosome banding -- The centromere -- The telomeres -- Euchromatin and heterochromatin -- 16: The cell cycle -- Overview -- G1-phase -- S-phase -- Mitosis or M-phase -- The centrosome cycle -- Medical issues -- 17: Biochemistry of the cell cycle -- Overview -- The G1/S checkpoint -- pRb/E2F -- p53, 'the guardian of the genome' -- CDKN2A -- The G2/M checkpoint -- The M-phase checkpoint -- 18: Gametogenesis -- Overview -- Meiosis I -- Prophase I -- Metaphase I, anaphase I, telophase I, cytokinesis I -- Meiosis II -- Male meiosis -- Female meiosis -- The significance of meiosis -- Part 4 : Basic molecular biology. 19: DNA structure -- Overview -- The structure of DNA -- The centromeres -- The telomeres -- Structural classes of human DNA -- Medical and legal issues -- 20: DNA replication -- Overview -- Replication -- Replication of the telomeres -- Repair systems -- Medical issues -- 21: The structure of genes -- Overview -- The structure of a typical gene -- Gene length -- Genes that share a promoter -- Overlapping genes -- Chromatin conformation -- Medical issues -- 22: Production of messenger RNA -- Overview -- Transcription factors -- Transcription -- Initiation -- Elongation -- Termination -- RNA processing -- Medical issues -- 23: Non-coding RNA -- Overview -- Heterogeneous nuclear and messenger RNA -- Long non-coding RNA -- Transfer RNA -- Ribosomal RNA -- Small nuclear RNA -- Signal recognition particle RNA -- MicroRNAs -- Medical issues -- 24: Protein synthesis -- Overview -- The genetic code -- Translation -- Initiation -- Elongation -- Termination -- Protein structure -- Post-translational modification -- Medical issues -- Part 5 : Genetic variation -- 25: Types of genetic alterations -- Overview -- Substitutions, deletions, insertions, frameshifts and duplications -- Copy number variation -- Transcriptional control -- RNA processing -- Mobile elements -- Haemoglobinopathies -- Haemophilia A -- Nomenclature of mutations -- 26: Mutagenesis and DNA repair -- Overview -- Chemical mutagenesis -- Electromagnetic radiation -- Ultraviolet light -- Atomic radiation -- Biological effects of radiation -- Safety measures when using X-rays -- DNA repair -- 27: Genomic imprinting -- Overview -- Prader-Willi and Angelman syndromes (P-WS and AS) -- Beckwith-Wiedemann syndrome (B-WS) -- Maintenance methylase -- 28: Dynamic mutation -- Overview -- The triplet repeat disorders -- Huntington disease (HD) -- Huntington's chorea -- Fragile X disease A (FRAX-A). Myotonic dystrophy type 1 (MD1) -- Pleiotropic expression -- Meiotic drive -- Locus heterogeneity -- 29: Normal polymorphism -- Overview -- Environment-related polymorphism -- Sunlight -- Food -- Alcohol -- Selection by malaria -- Sickle cell anaemia (intermediate dominance -- ID) -- Thalassaemia (AR) -- G6PD deficiency (XR) -- The Duffy blood group (Co-D) -- Resistance to Human Immunodeficiency Virus, HIV -- Transfusion and transplantation -- The ABO system -- The Rhesus system -- The HLA system -- Drug metabolism -- 30: Allele frequency -- Overview -- The Hardy-Weinberg law -- Diallelic autosomal system with codominance -- Diallelic autosomal system with dominance and recessivity (e.g. albinism) -- Triallelic autosomal system with codominance and dominance (e.g. the ABO blood groups) -- Diallelic X-linked system with dominance and recessivity (e.g. G6PD deficiency) -- Necessary conditions -- Applications of the Hardy-Weinberg law -- Examples -- Autosomal recessive conditions -- X-linked recessive conditions -- Consequence of medical intervention -- Measures of disease frequency -- Part 6 : Organization of the human genome -- 31: Genetic linkage and genetic association -- Overview -- Genetic linkage -- Genetic mapping -- The Human Genome Project (HGP) -- Genetic association -- 32: Physical gene mapping -- Overview -- Chromosome assignment -- Patterns of transmission -- Chromosome flow-sorting, flow cytometry -- Somatic cell hybrids -- Regional mapping -- Family linkage studies -- Restriction mapping -- Cross-over analysis -- Gene dosage -- In situ hybridization -- High-resolution mapping -- Cloning -- Fibre-FISH -- 33: Gene identification -- Overview -- Identification of genes with known gene products -- Positional cloning -- Gene identification by whole exome/whole genome sequencing -- 34: Clinical application of linkage and association -- Overview. Linkage analysis.
9781118689028
Chromosome abnormalities.
Genetic disorders.
Medical genetics.
Electronic books.
RB155 .P75 2013
616/.042
Medical Genetics at a Glance. - 1st ed. - 1 online resource (233 pages) - New York Academy of Sciences Series . - New York Academy of Sciences Series .
Cover -- Title page -- Copyright page -- Contents -- Preface to the first edition -- Preface to the third edition -- Acknowledgements -- List of abbreviations -- Part 1 : Overview -- 1: The place of genetics in medicine -- The case for genetics -- Genes in development -- Genotype and phenotype -- Genetics in medicine -- The application of genetics -- Part 2 : The Mendelian approach -- 2: Pedigree drawing -- Overview -- The medical history -- Rules for pedigree diagrams -- The practical approach -- Use of pedigrees -- 3: Mendel's laws -- Overview -- The principle of unit inheritance -- The principle of dominance -- The principle of segregation -- Example -- The principle of independent assortment -- Example -- The test-mating -- Matings between double heterozygotes -- Biological support for Mendel's laws -- Exceptions to Mendel's laws -- 1. Sex-related effects -- 2. Mitochondrial inheritance -- 3. Genetic linkage -- 4. Polygenic conditions -- 5. Overdominance, codominance, variable expressivity and incomplete penetrance -- 6. Genomic imprinting -- 7. Dynamic mutation -- 8. Meiotic drive -- Conclusion -- 4: Principles of autosomal dominant inheritance and pharmacogenetics -- Overview -- Rules for autosomal dominant inheritance -- Example -- Estimation of risk -- Estimation of mutation rate -- Pharmacogenetics -- Debrisoquine hydroxylase deficiency (AR) -- Porphyria variegata (AD) -- G6PD deficiency (X-linked R) (see Chapter 11) -- N-acetyl transferase deficiency (AR) -- Pseudocholinesterase deficiency (AR) -- Halothane sensitivity, malignant hyperthermia (genetically heterogeneous) -- Thiopurine methyltransferase deficiency (ACo-D) -- 5: Autosomal dominant inheritance, clinical examples -- Overview -- Disorders of the fibroblast growth factor receptors -- Achondroplasia -- Marfan syndrome (MFS) -- Familial hypercholesterolaemia (FH). Dentinogenesis imperfecta 1 (DGI) -- Otosclerosis 1 (OTSC1) -- Adult polycystic kidney disease (APKD, PKD) -- Multiple hereditary exostoses (EXT) -- 6: Autosomal recessive inheritance, principles -- Overview -- Rules for autosomal recessive inheritance -- Example: albinism -- Estimation of risk -- Example: congenital deafness -- 7: Consanguinity and major disabling autosomal recessive conditions -- Overview -- Management issues -- Consanguineous matings -- Incestuous matings -- Brother-sister matings -- Parent-child matings -- Risk for offspring -- First cousin marriages -- Mental handicap -- Oculocutaneous albinism -- Recessive blindness -- Retinitis pigmentosa (RP) -- Severe congenital deafness -- Connexin 26 defects (CX26) -- Pendred syndrome (PDS) -- 8: Autosomal recessive inheritance, life-threatening conditions -- Overview -- Cystic fibrosis (CF) -- Tay-Sachs disease, GM2 gangliosidosis -- Phenylketonuria (PKU) -- Spinal muscular atrophy (SMA) -- 9: Aspects of dominance -- Overview -- Codominance (Co-D), the ABO blood groups -- Incomplete dominance, overdominance and heterosis -- Incomplete penetrance -- Delayed onset -- Variable expressivity -- Neurofibromatosis type 1 (NF1), Von Recklinghausen disease -- 10: X-linked and Y-linked inheritance -- Overview -- Rules of X-linked recessive inheritance -- Estimation of risk for offspring -- X-linked dominant disorders -- Rules for inheritance -- Y-linked or holandric inheritance -- Rules for inheritance -- Pseudoautosomal inheritance or 'partial sex linkage' -- Rules for inheritance -- Sex limitation and sex influence -- 11: X-linked inheritance, clinical examples -- Introduction -- Haemophilia A (HbA), classic haemophilia -- Red and green colour blindness -- Duchenne muscular dystrophy (DMD) -- Becker muscular dystrophy (BMD) -- Fragile X syndrome (FRAX-A [and FRAX-E]). Vitamin D-resistant rickets, hypophosphataemic rickets -- Hereditary motor and sensory neuropathy (HMSN), Charcot-Marie-Tooth disease -- Incontinentia pigmenti (IP) -- Barth syndrome, X-linked cardioskeletal myopathy, endocardial fibroelastosis -- Rett syndrome -- 12: Mitochondrial inheritance -- Overview -- Mitochondrial disorders -- Rules of mitochondrial inheritance -- Examples -- Myoclonic epilepsy with ragged red fibre disease (MERRF) -- Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) -- Neurodegeneration, ataxia and retinitis pigmentosa (NARP) -- Leigh disease -- Leber hereditary optic neuropathy (LHON) -- Maternally transmitted ototoxic deafness -- Mitochondrial RNA -- Medical issues -- 13: Risk assessment in Mendelian conditions -- Overview -- Risk assessment -- Bayes' theorem -- Application of Bayes' theorem -- X-linked recessive disease -- Autosomal recessive disease -- Autosomal dominant of incomplete penetrance -- Isolated cases -- Empiric risks -- Part 3 : Basic cell biology -- 14: The cell -- Overview -- The plasma membrane -- The nucleus -- The cytoplasm -- The secretion pathway -- Endocytosis -- Cell junctions -- Medical issues -- 15: The chromosomes -- Overview -- Chromatin structure -- Chromosome banding -- The centromere -- The telomeres -- Euchromatin and heterochromatin -- 16: The cell cycle -- Overview -- G1-phase -- S-phase -- Mitosis or M-phase -- The centrosome cycle -- Medical issues -- 17: Biochemistry of the cell cycle -- Overview -- The G1/S checkpoint -- pRb/E2F -- p53, 'the guardian of the genome' -- CDKN2A -- The G2/M checkpoint -- The M-phase checkpoint -- 18: Gametogenesis -- Overview -- Meiosis I -- Prophase I -- Metaphase I, anaphase I, telophase I, cytokinesis I -- Meiosis II -- Male meiosis -- Female meiosis -- The significance of meiosis -- Part 4 : Basic molecular biology. 19: DNA structure -- Overview -- The structure of DNA -- The centromeres -- The telomeres -- Structural classes of human DNA -- Medical and legal issues -- 20: DNA replication -- Overview -- Replication -- Replication of the telomeres -- Repair systems -- Medical issues -- 21: The structure of genes -- Overview -- The structure of a typical gene -- Gene length -- Genes that share a promoter -- Overlapping genes -- Chromatin conformation -- Medical issues -- 22: Production of messenger RNA -- Overview -- Transcription factors -- Transcription -- Initiation -- Elongation -- Termination -- RNA processing -- Medical issues -- 23: Non-coding RNA -- Overview -- Heterogeneous nuclear and messenger RNA -- Long non-coding RNA -- Transfer RNA -- Ribosomal RNA -- Small nuclear RNA -- Signal recognition particle RNA -- MicroRNAs -- Medical issues -- 24: Protein synthesis -- Overview -- The genetic code -- Translation -- Initiation -- Elongation -- Termination -- Protein structure -- Post-translational modification -- Medical issues -- Part 5 : Genetic variation -- 25: Types of genetic alterations -- Overview -- Substitutions, deletions, insertions, frameshifts and duplications -- Copy number variation -- Transcriptional control -- RNA processing -- Mobile elements -- Haemoglobinopathies -- Haemophilia A -- Nomenclature of mutations -- 26: Mutagenesis and DNA repair -- Overview -- Chemical mutagenesis -- Electromagnetic radiation -- Ultraviolet light -- Atomic radiation -- Biological effects of radiation -- Safety measures when using X-rays -- DNA repair -- 27: Genomic imprinting -- Overview -- Prader-Willi and Angelman syndromes (P-WS and AS) -- Beckwith-Wiedemann syndrome (B-WS) -- Maintenance methylase -- 28: Dynamic mutation -- Overview -- The triplet repeat disorders -- Huntington disease (HD) -- Huntington's chorea -- Fragile X disease A (FRAX-A). Myotonic dystrophy type 1 (MD1) -- Pleiotropic expression -- Meiotic drive -- Locus heterogeneity -- 29: Normal polymorphism -- Overview -- Environment-related polymorphism -- Sunlight -- Food -- Alcohol -- Selection by malaria -- Sickle cell anaemia (intermediate dominance -- ID) -- Thalassaemia (AR) -- G6PD deficiency (XR) -- The Duffy blood group (Co-D) -- Resistance to Human Immunodeficiency Virus, HIV -- Transfusion and transplantation -- The ABO system -- The Rhesus system -- The HLA system -- Drug metabolism -- 30: Allele frequency -- Overview -- The Hardy-Weinberg law -- Diallelic autosomal system with codominance -- Diallelic autosomal system with dominance and recessivity (e.g. albinism) -- Triallelic autosomal system with codominance and dominance (e.g. the ABO blood groups) -- Diallelic X-linked system with dominance and recessivity (e.g. G6PD deficiency) -- Necessary conditions -- Applications of the Hardy-Weinberg law -- Examples -- Autosomal recessive conditions -- X-linked recessive conditions -- Consequence of medical intervention -- Measures of disease frequency -- Part 6 : Organization of the human genome -- 31: Genetic linkage and genetic association -- Overview -- Genetic linkage -- Genetic mapping -- The Human Genome Project (HGP) -- Genetic association -- 32: Physical gene mapping -- Overview -- Chromosome assignment -- Patterns of transmission -- Chromosome flow-sorting, flow cytometry -- Somatic cell hybrids -- Regional mapping -- Family linkage studies -- Restriction mapping -- Cross-over analysis -- Gene dosage -- In situ hybridization -- High-resolution mapping -- Cloning -- Fibre-FISH -- 33: Gene identification -- Overview -- Identification of genes with known gene products -- Positional cloning -- Gene identification by whole exome/whole genome sequencing -- 34: Clinical application of linkage and association -- Overview. Linkage analysis.
9781118689028
Chromosome abnormalities.
Genetic disorders.
Medical genetics.
Electronic books.
RB155 .P75 2013
616/.042