Genes in Medicine: Molecular biology and human genetic disordersSpringer Science & Business Media, 30 sept 1994 - 432 páginas This stimulating book bridges the gap between molecular biology and human genetics. Specifically written for medical students and human geneticists, it is a valuable guide to a rapidly moving field. |
Índice
Background | 3 |
12 The celebrated WatsonCrick model | 11 |
13 Consequences of DNA structures | 15 |
Principles of molecular techniques | 28 |
denaturation and hybridization | 32 |
24 The powerful polymerase chain reaction | 33 |
restriction endonucleases | 35 |
26 Southern blotting and related techniques | 36 |
mutations and duplications | 216 |
Waardenburg syndrome | 218 |
malignant hyperthermia | 220 |
cystic fibrosis | 221 |
87 Muscular dystrophies | 225 |
Lowe syndrome | 232 |
89 The paradoxical genetics of fragileX syndrome | 234 |
myotonic dystrophy Kennedy disease and spinocerehellar ataxia | 237 |
27 Joining of DNA fragments | 37 |
28 Cloning vectors | 39 |
210 Phage vectors | 41 |
212 Other vectors | 42 |
213 Constructing a DNA library | 43 |
214 Searching the library for individual sequences | 46 |
215 Grand caveat | 48 |
218 Sitespecific mutagenesis | 52 |
220 Transgenic animals | 54 |
DNA and chromosomes | 60 |
32 The packaging of DNA in a human cell | 63 |
chromosomes | 68 |
polytene chromosomes | 75 |
mitochondrial DNA | 76 |
From DNA to protein | 78 |
42 Control of transcription and cellular differentiation | 83 |
action at the promoter | 84 |
action at the enhancer | 87 |
45 A brief guide to the terminology of transcription factors | 88 |
46 Mode of action of promoter and enhancerbinding factors | 92 |
47 Implications for ectopic transgenesis | 95 |
49 Terminal processing of RNA after transcription | 100 |
splicing introns and exons | 101 |
411 Other forms of mRNA processing | 105 |
translation | 107 |
413 Posttranslational processing of proteins | 111 |
414 Retrospect and prospect | 113 |
Mutations and how they happen | 114 |
52 The spectrum of mutations | 116 |
DNA replication | 120 |
reverse transcription | 124 |
55 Errors in normal replication | 127 |
56 DNA damage and repair | 128 |
when replication meets damage | 133 |
58 Recombination as a source of genetic variation | 137 |
59 The mysteries of gene conversion | 138 |
aneuploidy | 140 |
uniparental disomy and gene imprinting | 142 |
Genes in Medicine | 145 |
Principles of identification of human genetic disorders | 147 |
62 Molecular somatic cell genetics | 150 |
63 Forward genetics or functional cloning | 151 |
the candidate gene approach | 152 |
65 Positional cloning or reverse genetics | 155 |
66 Moving from the linked marker to the gene | 157 |
YACs and associated techniques | 161 |
the Human Genome Project | 164 |
identifying the mutants | 166 |
Molecular pathology of diseases with simple genetics the forward approach | 172 |
the first identified molecular defect | 176 |
different mutant genes similar phenotype | 177 |
founder effect or legacy of the ghetto? | 180 |
75 The confirmatory case of Gaucher disease | 183 |
a1 antitrypsin deficiency | 185 |
phenylketonuria | 188 |
Albright hereditary osteodystrophy | 190 |
Xlinked color blindness | 192 |
21steroid hydroxylase deficiency | 194 |
molecular bricolage | 196 |
712 CreutzfeldtJacob syndrome and related diseases | 201 |
713 Osteogenesis imperfecta and other collagen diseases | 204 |
LeschNyhan syndrome | 209 |
Molecular pathology of diseases with simple genetics candidate genes and positional cloning | 213 |
making mouse models | 215 |
811 The long hunt for the Huntingtons chorea gene | 240 |
positional cloning of an imprinted gene? | 243 |
double misfortune explained | 245 |
814 The sex chromosome abnormalities and their controlling genes | 246 |
working from the complete sequence | 250 |
Molecular genetics of disease complex systems | 254 |
cholesterol transport and familiar hypercholesterolemia | 255 |
92 Genetic complexities of atherosclerosis | 260 |
genes for high blood pressure | 266 |
94 Familial hypertrophic cardiomyopathy | 270 |
95 Molecular approaches to psychiatric disorders | 271 |
manic depression and schizophrenia | 275 |
97 Genes contributing to diabetes mellitus | 278 |
98 Genes and old age | 280 |
Immunogenetics and disease | 284 |
antibodies Tcell receptors andMHC antigens | 286 |
103 Bcell antibody gene structure and rearrangement | 289 |
104 Additional generation of diversity | 293 |
105 Clonal selection and isotype switching | 294 |
106 Generation of diversity and selection in T cells | 295 |
107 Specific genetic immunodeficiencies | 300 |
108 Human severe combined immunodeficiency disease SCID | 303 |
HIV and AIDS | 305 |
models in search of a human disease | 307 |
1011 Immunodeficiencies in the nonanticipatory systems | 310 |
1012 The variability of the MHC complex | 311 |
1013 Causes and effects of MHC polymorphism | 315 |
a plethora of new genes | 316 |
the blood groups | 318 |
the immune system and susceptibility to disease | 319 |
1017 Insulindependent diabetes mellitus | 322 |
1018 Rheumatoid arthritis | 325 |
1019 The dubious genetics of allergy | 326 |
monoclonal antibodies | 327 |
Molecular genetics of cancer | 331 |
112 Carcinogens and mutagens | 333 |
113 The discovery ofoncogenes in transforming retroviruses | 334 |
DNA tumor viruses | 337 |
transfection and sequence homology | 339 |
positional cloning | 341 |
117 The menagerie ofoncogenes | 344 |
118 Oncogenes directly concerned with growth factors | 345 |
119 Gprotein oncogenes | 347 |
1110 Oncogenes concerned with cytoplasmic kinases | 348 |
1111 Nuclear oncogenes | 350 |
1112 Oncogenes and apoptosis | 351 |
1113 Oncogene collaboration | 353 |
1114 Germline mutations in protooncogenes | 354 |
1115 Tumor suppressor genes | 355 |
the first tumor suppressor | 356 |
a benign tumor through failure to inactivate ras protein | 359 |
1118 Kidney colon and breast tumor suppressor genes | 361 |
p53 | 365 |
UV repairdeficiency diseases | 368 |
1121 Other repair deficiencies | 371 |
1122 Subtler variations in repair | 373 |
1123 Additional stages in tumor progression | 374 |
Molecular biology in society and medicine | 377 |
121 Prospects for human gene therapy | 380 |
122 The impact of genetics on cancer therapy | 383 |
123 Genetic counseling | 385 |
| 387 | |
| 410 | |
Términos y frases comunes
activity alleles amino-acid analysis antibodies antigens autosomal bacteria base-pairs bases binding blood cancer cDNA cellular chain cholesterol chromatin chromosome cluster coding codon common complex contain cytoplasmic defect deficiency deletion DNA sequences domain dystrophin dystrophy encoded exon expressed factor VIII Figure fragments function gene genetic disease genome globin homologous hormone HPRT human genome hybridization identified immune system inactivated infection inherited inserted interact intron involved kinase known linkage liver lymphocytes male mapped markers maternal membrane methylation mice mitochondrial molecular mouse mRNA muscle normal nuclear nucleosomes nucleotides occur oncogenes patients patterns peptide phage phenotype plasmid point mutations polymorphism positional cloning possible probes produce promoter protein pseudogene rearrangement receptor recombination region repair replication restriction enzymes RFLP RNA polymerase selected signal somatic cell specific splicing strand structure syndrome synthesis technique telomere therapy tion tissues transcribed transcription factors transfected transgenic translocation triplet tumor suppressor vectors viral X chromosome X-linked
Pasajes populares
Página 391 - Burke, DT, Carle, GF, and Olson, MV (1987) Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors.
Página 398 - O'Riordan, CR, and Smith, AE (1990). Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis.
Página 393 - Moyer M, Boyer S: Treatment of sickle cell anemia with 5-azacytidine results in increased fetal hemoglobin production and is associated with nonrandom hypomethylation of DNA around the gamma-delta-betaglobin gene complex.
Página 405 - Angel, P. and Karin, M. (1991) The role of Jun, Fos and the Ap-1 complex in cell proliferation and transformation.
Página 406 - A cell cycle regulator potentially involved in genesis of many tumor types.
Página 391 - The efficiency of multilocus DNA fingerprint probes for individualization and establishment of family relationships, determined from extensive casework. Am. J. Hum. Genet. 48, 824-840.
Página 398 - Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352:337-339.
Página 401 - DC (1990) Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell 61, 931-937.
Página 407 - Mulligan LM. Kwok JB. Healey CS. Elsdon MJ. Eng C. Gardner E. Love DR.
Página 408 - Gene therapy in human beings: when is it ethical to begin?