Molecular and genetic analysis of human traits /
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| Author / Creator: | Maroni, Gustavo. |
|---|---|
| Imprint: | Malden, MA : Blackwell Science, c2001. |
| Description: | xii, 274 p. ; ill. (some col.) ; 26 cm. |
| Language: | English |
| Subject: | |
| Format: | E-Resource Print Book |
| URL for this record: | http://pi.lib.uchicago.edu/1001/cat/bib/4353750 |
Table of Contents:
- Preface
- Chapter 1. The Inheritance of Simple Mendelian Traits in Humans
- Detecting Mendelian Inheritance in Humans
- Test-Crosses and Pure Lines versus Pedigrees and Inferred Genotypes
- Patterns of Inheritance and Examples
- Autosomal Dominant Traits
- Autosomal Recessive Traits
- X-Linked Recessive Traits
- The use of Pedigrees to Predict the Results of Matings
- Probability of Individual Genotypes
- Probability of Group Outcomes
- Gathering Data to Test the Mode of Inheritance of a Trait
- Pooling Data from Many Families and Ascertainment Errors
- Ascertainment errors in studies of dominant traits
- Ascertainment errors in studies of recessive traits
- Inheritance of Multiple Traits: Independent Assortment and Linkage
- Determination of Linkage from Human Pedigrees
- Genetic Recombination and LOD Scores
- Informative and Noninformative Matings
- Neutral Polymorphisms, Marker Loci, and Genetic Maps
- The use of protein products to define marker loci
- The use of directly detected DNA differences as marker loci
- Conclusion
- Exercises
- References
- Box 1.1.. Early observations of Mendelian inheritance in humans
- Box 1.2.. Internet sites
- Example 1.1.. Linkage of the Huntington's disease gene to an RFLP
- Chapter 2. Hereditary Traits That Do Not Show a Simple Mendelian Pattern
- Single-Gene Traits Lacking a Simple Mendelian Pattern
- Variable Expressivity and Incomplete Penetrance
- Complementation
- Phenocopies and Pleiotropy
- Quantitative Traits
- Multiple Alleles
- Polygenic Inheritance
- Major and Minor Genes
- Complex Traits
- Epidemiological Analysis of Complex Traits
- Liability
- Family Clustering
- Identical Twins
- Localization of Genes Responsible for Complex and Quantitative Traits
- Linkage Analysis of Complex Traits
- Affected Pedigree Member (APM) or Allele-Sharing Methods
- Analysis of quantitative trait loci by allele-sharing methods
- Allelic Association
- Candidate Gene
- Conclusion: Nature Versus Nurture
- Exercises
- References
- Example 2.1.. Familial psoriasis
- Example 2.2.. Familial breast cancer
- Example 2.3.. Insulin-dependent diabetes mellitus
- Example 2.4.. Male homosexuality
- Example 2.5.. Dyslexia
- Example 2.6.. Nonsyndromal autosomal recessive deafness
- Example 2.7.. Neuroticism and genes for serotonin metabolism
- Chapter 3. Genome Organization I
- Unexpressed Dna, Repetitive and Unique Sequences
- Clustered, Highly Repetitive Sequences
- The main families of highly repetitive sequences
- Small-Cluster, Intermediately Repeated DNA
- Minisatellite DNA
- Microsatellite DNA
- Dispersed, Intermediately Repeated Sequences
- Viral retrotransposons
- Nonviral retrotransposons: Alu, L1, and processed pseudogenes
- Unique Sequence DNA
- Expressed Dna, Genes and Gene Families
- The Organization of RNA Polymerase II Genes: Introns and Exons
- Gene Families
- Ribosomal RNA Genes
- Conclusion
- Exercises
- References
- Box 3.1.. Internet sites
- Example 3.1.. The [alpha] family of highly repetitive DNA
- Example 3.2.. Collagen
- Example 3.3.. Cystic fibrosis
- Example 3.4.. Duchenne muscular dystrophy
- Example 3.5.. The globin gene family
- Example 3.6.. The retinal visual pigments
- Chapter 4. Genome Organization II
- Isolation and Characterization of Human Genes
- Expression Cloning
- Oligonucleotide probes
- Libraries in expression vectors
- Functional assays
- Differential colony or plaque hybridization (+/- hybridization)
- Cloning by Homology to Other Species
- Reverse Genetics
- Positional Cloning
- Chromosome walking and jumping
- Heterologous hybridization
- Chromosomal rearrangements
- CpG islands
- Open reading frames
- Hybridization to mRNA
- Exon amplification
- Mutant DNA sequence
- Candidate gene
- The Human Genome Project
- The Genetic Map
- Physical Maps
- Restriction maps
- Pulsed-field gel electrophoresis and restriction enzymes with infrequent restriction sites (rare-cutters)
- Contigs
- Fluorescence in situ hybridization
- Radiation hybrid mapping
- Other Tools
- The Sequence-Tagged Site (STS) Proposal
- Advances in the Human Genome Project
- Identification and localization of genes
- Genome sequencing
- Directed sequencing
- Random (shotgun) sequencing
- Conclusion: The end in Sight
- Exercises
- References
- Box 4.1.. Ethical concerns
- Box 4.2.. You're going to patent my genes?!
- Box 4.3.. Internet sites
- Example 4.1.. Isolation and characterization of a cDNA coding for human factor IX
- Example 4.2.. Isolation of cDNA clones for human von Willebrand factor
- Example 4.3.. Cloning of a mammalian proton-coupled metal-ion transporter
- Example 4.4.. Cloning of gene sequences regulated by platelet derived growth factor
- Example 4.5.. The cystic fibrosis gene
- Example 4.6.. Cloning the Huntington's disease gene (HDH)
- Example 4.7.. Microsatellite DNA
- Example 4.8.. Contig of chromosome 21q
- Example 4.9.. Sequence of chromosomes 21 and 22
- Chapter 5. Chromosomes and Karyotypes
- The Morphology of Human Chromosomes
- Banding Techniques
- Chromosomal Abnormalities
- Abnormal Chromosome Numbers
- Polypolidy
- Aneuploidy
- Abnormal Chromosome Structure
- Deletions and duplications
- Inversions
- Translocations
- Robertsonian translocations
- The Use of FISH to Identify Chromosomal Rearrangements
- Sex Chromosomes
- The Y-Chromosome
- The X-Chromosome and Dosage Compensation
- The expression of X-linked genes in heterozygotes
- Identification of the inactive X
- X-inactivation center (XIC)
- X-autosome translocations
- The Use of Cytogenetics to Localize Genes
- Somatic Cell Genetics
- Conclusion
- Exercises
- References
- Example 5.1.. Aneuploidy in a family with a reciprocal translocation
- Example 5.2.. Discordant monozygotic twins
- Chapter 6. How Mutant Alleles Affect the Phenotype
- Effects of Mutations on the Quality and Quantity of Protein Products
- Mutations in the Coding Region
- Mutations outside the Coding Region
- Loss-of-Function Mutations
- Gain-of-Function Mutations
- Mutations in Soluble Enzymes
- Electrophoretic Variants
- Mutations with Complete or Partial Loss of Enzyme Activity
- Gain-of-Function Mutations in Enzymes
- Mutations in Structural Proteins
- Mutations in Transport Proteins
- Mutations in Regulatory Proteins
- Conclusion
- Exercises
- References
- Box 6.1.. Internet sites
- Example 6.1.. Phenylketonuria
- Example 6.2.. Galactosemia
- Example 6.3.. Porphyrias
- Example 6.4.. Familial amyotrophic lateral sclerosis
- Example 6.5.. Osteogenesis imperfecta
- Example 6.6.. Muscular dystrophies
- Example 6.7.. Hemoglobin
- Example 6.8.. Cystic fibrosis transmembrane conductance regulator (CFTR)
- Chapter 7. Mutations: Damage and Repair of DNA
- Endogenous (or Spontaneous) dna Damage
- Instability of the DNA Molecule
- Tautomeric shifts
- Deamination
- Oxidation and methylation of bases
- Loss of bases
- Errors in Replication
- Strand slippage
- Trinucleotide repeat diseases
- Errors in Recombination
- Insertional Mutagenesis
- Exogenous (or Environmental) Dna Damage
- Ionizing Radiation
- Ultraviolet Radiation
- Chemical Agents
- Alkylating agents
- Cross-linking agents and bulky adducts
- Inactive chemicals metabolized to reactive mutagens
- Dna Repair Systems
- Reversal of Damage
- Base Excision Repair
- Nucleotide Excision Repair
- Mismatch Repair
- Other Repair Processes
- Mutation Rates
- Somatic Mutations and Mosaicism
- Conclusion
- Exercises
- References
- Example 7.1.. Deamination of cytosine and 5-methylcytosine
- Example 7.2.. Huntington's disease
- Example 7.3.. Fragile X mental retardation
- Example 7.4.. Xeroderma pigmentosum and nucleotide excision repair
- Example 7.5.. Epidermolytic hyperkeratosis and keratins K1 and K10
- Example 7.6.. Transmission of a fragile X mutation from an affected male to his normal daughter
- Example 7.7.. Germline mosaicism in a case of Duchenne muscular dystrophy
- Chapter 8. Cancer: A Genetic Disease
- The Cell Cycle Under Control
- Nuclear Events
- The Cytoplasm: Receiving and Transducing Signals
- Cancer Cells
- Progression from Normal Cells to Cancer
- Cells in Culture
- Oncogenes
- Growth Factors and Their Receptors as Oncogenic Proteins
- RAS and the MAP Kinase Cascade
- Nuclear Oncogenes
- Suppression of Apoptosis
- Tumor Suppressor Genes
- Retinoblastoma
- p53
- HNPCC Family of Mismatch Repair Genes
- BRCA1 and BRCA2
- Gatekeepers and Caretakers
- Mutations and Other Changes That Alter the Function of Cancer Genes
- Epigenetic Changes--Altered Chromatin Methylation
- Point Mutations
- Chromosomal Rearrangements
- Activation of proto-oncogenes by translocations
- Chimeric proteins
- Gene Amplification
- Viruses
- Small DNA tumor viruses
- Retroviruses
- Genetic Instability
- Invasiveness
- Cellular Immortality and Telomeres
- Conclusion
- Exercises
- References
- Box 8.1.. Internet sites
- Chapter 9. Genetic Counseling
- Prenatal, Neonatal, Childhood, and Adult Genetic Testing
- Prenatal Genetic Testing
- Neonatal and Childhood Genetic Testing
- Adult Genetic Testing
- Actual Risk and Perceived Risk
- Exercises
- References
- Box 9.1.. Case 1: Knowing too much
- Box 9.2.. Case 2: Disagreement between spouses
- Box 9.3.. Case 3: Sharing information with adult offspring
- Box 9.4.. Case 4: When ignorance is not bliss
- Box 9.5.. Case 5: Similar situations, different courses
- Example 9.1.. Phenylketonuria
- Appendix
- Index
