Gardner A. Human genetics (Bloxham, 2009). - ОГЛАВЛЕНИЕ / CONTENTS
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ОбложкаGardner A. Human genetics / A.Gardner, T.Davies. - 2nd ed. - Bloxham: Scion Publishing Limited, 2009. - xv, 328 p.: ill. - Ind.: p.323-328. - Incl. bibl. ref. - ISBN 978-1904842-73-6
 

Оглавление / Contents
 
Preface ........................................................ xi
Acknowledgements ............................................... xi
Abbreviations ................................................. xii

1  Organization of DNA .......................................... 1
   1.1  Chromosome structure and the DNA molecule ............... 2
   1.2  DNA replication  6 Principle of replication ............. 6
        Eukaryotic replication .................................. 7
   1.3  The cell cycle .......................................... 8
   1.4  Mitosis and meiosis ..................................... 9
        Mitosis ................................................. 9
        Meiosis ................................................ 11
   1.5  Genes .................................................. 14
        The nuclear genome ..................................... 14
        The mitochondrial genome ............................... 15
   1.6  Chromosomes and chromatin .............................. 15
        Heterochromatin and euchromatin ........................ 16
   1.7  Chromosomes and nomenclature ........................... 17
   Suggested further reading ................................... 18
   Self-assessment questions ................................... 18

2  How normal genes work ....................................... 19
   2.1  Gene expression ........................................ 20
   2.2  Transcription .......................................... 20
   2.3  Translation ............................................ 21
   2.4  Control of gene expression ............................. 23
        Transcriptional control ................................ 25
        Post-transcriptional regulation ........................ 28
        Translational control .................................. 28
        Other methods of gene control .......................... 29
   2.5  Epigenetics and genomic imprinting ..................... 30
        Genomic imprinting ..................................... 31
   2.6  DNA repair ............................................. 34
   2.7  Immunogenetics ......................................... 36
        The immune system ...................................... 36
        В cells ................................................ 37
        T cells ................................................ 39
   2.8  Mitochondrial genes .................................... 40
   2.9  Developmental genetics ................................. 40
        Embryonic pattern formation ............................ 42
   2.10 Sex differentiation .................................... 45
        Sexual development in the fetus ........................ 45
        Other genes involved in sexual differentiation ......... 46
   2.11 Summary ................................................ 46
   Suggested further reading ................................... 47
   Self-assessment questions ................................... 47

3  Mechanisms of disease ....................................... 49
   3.1  Mutations .............................................. 50
        Triplet repeats/dynamic mutations ...................... 53
   3.2  Alteration of gene control ............................. 55
        Positional effects ..................................... 55
        Abnormal dosage and haploinsufficiency ................. 56
        Skewed X-inactivation patterns ......................... 57
        Epigenetic pathology ................................... 58
        Methylation, epigenetic alterations and  cancer ........ 58
        Methylation and imprinting disorders ................... 58
   3.3  DNA repair defects in human disease .................... 59
        Xeroderma pigmentosum .................................. 59
        Other disorders of DNA repair and replication .......... 60
   3.4  Immunogenetic diseases ................................. 60
   3.5  Mitochondrial mutations ................................ 61
   3.6  Developmental changes .................................. 62
        Growth factor receptors ................................ 62
        Hedgehog signalling pathway ............................ 63
        Homeobox genes ......................................... 64
   3.7  Sex determination ...................................... 64
        Sex reversal ........................................... 64
        Evidence of other genes influencing sex
        determination .......................................... 65
        Other examples of abnormalities of sexual
        differentiation ........................................ 65
   3.8  Summary ................................................ 66
   Suggested further reading ................................... 67
   Self-assessment questions ................................... 67

4  Patterns of inheritance ..................................... 69
   4.1  Classical genetics ..................................... 70
        Mendel's laws .......................................... 70
   4.2  Linkage ................................................ 71
   4.3  Recombination .......................................... 71
   4.4  The application of Mendel's laws to human genetics ..... 72
   4.5  Pedigrees .............................................. 73
   4.6  Mendelian inheritance patterns ......................... 74
        Autosomal dominant inheritance ......................... 74
        Autosomal recessive inheritance ........................ 77
        X-linked recessive inheritance ......................... 78
        X-linked dominant inheritance .......................... 79
        Fragile X - a special case? ............................ 80
        Y-linked inheritance ................................... 80
   4.7  Other problems with inheritance ........................ 80
        Heterogeneity .......................................... 80
        Parental origin ........................................ 82
        New mutations .......................................... 82
        Germline mosaicism ..................................... 82
   4.8  Mitochondrial inheritance .............................. 82
   4.9  Gradation of inheritance ............................... 83
   4.10 Population genetics .................................... 84
        The Hardy-Weinberg equilibrium ......................... 85
   4.11 Linkage and Lod scores ................................. 87
   4.12 Bayes'theorem .......................................... 90
   4.13 Summary ................................................ 93
   Suggested further reading ................................... 93
   Self-assessment questions ................................... 93

5  Cytogenetics ................................................ 95
   5.1  The human karyotype .................................... 96
        Ploidy ................................................. 97
   5.2  Preparing chromosomes .................................. 98
        pH ..................................................... 99
        Temperature ............................................ 99
   5.3  Chromosome analysis ................................... 103
        Describing chromosomes - band nomenclature ............ 107
   5.4  Types of chromosome abnormalities ..................... 108
        Autosomal aneuploidies ................................ 109
        Chromosome abnormalities in spontaneous abortions ..... 109
        Structural abnormalities .............................. 111
        Translocations ........................................ 112
        Deletions ............................................. 117
        Isochromosomes ........................................ 120
        Inversions ............................................ 122
        Ring chromosomes ...................................... 124
        Duplications .......................................... 125
        Complex chromosome abnormalities ...................... 125
        Extra structurally abnormal chromosomes ............... 126
   5.5  The sex chromosomes ................................... 127
        XY pairing ............................................ 127
        Sex determination ..................................... 127  
        Turner syndrome ....................................... 128
        Klinefelter syndrome .................................. 128
        Other aneuploidies of sex chromosomes ................. 128
        Genes on the X chromosome ............................. 129
        Replication banding ................................... 130
        X;autosome translocations ............................. 130
        Sex reversal .......................................... 131
        Mosaicism ............................................. 131
   Suggested further reading .................................. 133
   Self-assessment questions .................................. 133

6  Molecular cytogenetics ..................................... 135
   6.1  Introduction .......................................... 136
   6.2  Fluorescence in situ hybridization .................... 136
        Probes ................................................ 137
        Basic principles of FISH .............................. 137
        Filters and microscopy ................................ 140
        Interphase FISH ....................................... 141
   6.3  Types of FISH probes .................................. 141
        Single copy probes .................................... 141
        Probes for small chromosome rearrangements ............ 143
        Centromere and repeat sequence probes ................. 146
        Chromosome painting of entire chromosomes ............. 151
   6.4  Comparative genomic hybridization ..................... 152
        Chromosomal comparative genomic hybridization ......... 154
        Array comparative genomic hybridization ............... 154
        Analysis and interpretation of array CGH results ...... 155
        Bioinformatics ........................................ 158
        The use of array CGH in clinical cytogenetics ......... 160
        The use of arrays in the investigation of children
        with learning difficulties ............................ 160
        Investigation of apparently balanced rearrangements ... 162
        The use of array CGH in prenatal diagnosis ............ 162
        Infertility and recurrent abortions ................... 163
        Cancer ................................................ 163
   6.5  Summary ............................................... 164
   Suggested further reading .................................. 164
   Self-assessment questions .................................. 165

7  Molecular genetics ......................................... 167
   7.1  Introduction to molecular genetics .................... 168
   7.2  Southern blotting ..................................... 168
        DNA probes ............................................ 169
        Restriction enzymes ................................... 170
        General principles of gel electrophoresis ............. 172
        Polymorphisms ......................................... 173
        Principles of Southern blotting ....................... 173
        Steps involved in Southern blotting ................... 174
        Interpretation of Southern blots ...................... 179
        Gene tracking ......................................... 183
        "Informativeness" ..................................... 184
   7.3  The polymerase chain reaction ......................... 185
        Principles of PCR ..................................... 185
        Details of a typical PCR method ....................... 187
        Applications of PCR ................................... 188
        Interpretation of PCRs ................................ 189
        Automated screening strategies using PCR .............. 196
        Detection of large duplications and deletions ......... 198
   7.4  Summary ............................................... 204
   Suggested further reading .................................. 204
   Self-assessment questions .................................. 204

8  Cancer genetics ............................................ 205
   8.1  Introduction to cancer cytogenetics ................... 206
   8.2  Oncogenes ............................................. 207
        Function of proto-oncogenes ........................... 207
        How oncogenes exert their effect ...................... 208
        Summary ............................................... 210
   8.3  Tumour suppressor genes ............................... 210
        Knudson's two-hit hypothesis .......................... 211
        Loss of heterozygosity ................................ 212
        Neuro-oncology ........................................ 213
   8.4  Apoptosis ............................................. 214
        The role of p53 ....................................... 214
        p53 and cancer ........................................ 216
        PTCH as a tumour suppressor ........................... 216
        Summary ............................................... 217
   8.5  Mismatch repair genes ................................. 217
   8.6  Cytogenetics and the investigation of malignancy ...... 218
        Cytogenetics and the haematological malignancies ...... 221
        The relationship between chromosome abnormalities
        and cancer ............................................ 232
   8.7  Cancer and the family ................................. 235
        Inherited breast cancer ............................... 236
        Testing for BRCA mutations ............................ 237
   8.8  Tbe multistep nature of cancer ........................ 238
   8.9  Summary ............................................... 239
   Suggested further reading .................................. 240
   Self-assessment questions .................................. 241

9  Prenatal diagnosis and screening ........................... 243
   9.1  Introduction .......................................... 244
   9.2  Prenatal diagnosis .................................... 245
        Identification of pregnancies at risk ................. 245
   9.3  Population screening .................................. 250
        The limitations of screening .......................... 253
        Prenatal screening in pregnancy ....................... 254
        Combining screening tests ............................. 259
        Second trimester testing .............................. 260
        Factors affecting maternal serum screening ............ 261
   9.4  Methods of prenatal diagnosis ......................... 261
        Methods for the rapid detection of Down syndrome ...... 263
        Problems associated with prenatal diagnosis ........... 264
        Other problems of interpretation of prenatal
        chromosome results .................................... 265
        Other screening before or during pregnancy ............ 266
        Screening for haemoglobin disorders ................... 267
        Newborn blood spot screening .......................... 267
   9.5  Alternatives to prenatal diagnosis .................... 270
        Assisted reproduction ................................. 270
        Pre-implantation genetic diagnosis .................... 272
        Cell-free nucleic acid for non-invasive prenatal
        diagnosis ............................................. 272
   9.6  The future ............................................ 274
   Suggested further reading .................................. 274
   Self-assessment questions .................................. 275

10 Genetic counselling and genetics and society ............... 277
   10.1 Introduction .......................................... 278
   10.2 Genetic counselling ................................... 279
        Establishing the diagnosis ............................ 281
        Calculating the risk .................................. 282
        Discussing the options ................................ 282
        Genetic testing of children ........................... 283
        Screening for genetic carrier status .................. 284
        Consanguinity ......................................... 285
        Unexpected information when taking the family tree .... 286
        Role of genetic testing in adoption ................... 287
        Investigating paternity ............................... 287
   10.3 Storage of genetic material - planning for the
        future ................................................ 289
   10.4 Protecting genetic information - consent and
        confidentiality in clinical practice .................. 290
        Consent ............................................... 290
        Data Protection Act 1998 .............................. 292
   10.5 Genetic susceptibility ................................ 293
        Familial cancer ....................................... 293
        Genetic registers ..................................... 295
   10.6 Genetic information and the insurance industry ........ 295
   10.7 Gene therapy .......................................... 296
   10.8 Over-the-counter genetic tests ........................ 297
   10.9 Babies by design - the ethics of genetic choice ....... 298
   10.10 Pharmacogenetics and personalized medicine ........... 298
   10.11 Genetic 'identity cards' and horoscopes .............. 300
   10.12 Disability and genetics .............................. 300
   10.13 The future ........................................... 301
   Suggested further reading .................................. 301
   Self-assessment questions .................................. 301

Answers to self-assessment questions .......................... 303

Appendices
   Glossary of disorders ...................................... 309
   Internet resources ......................................... 318

Index ......................................................... 323


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