Human genetics : the molecular revolution /
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| Format: | Book |
| Language: | English |
| Published: |
Boston :
Jones and Bartlett Publishers,
[1993]
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| Series: | Jones and Bartlett series in biology.
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| Subjects: |
Table of Contents:
- Introduction
- Some historical highlights
- Molecular era
- Organization the human genome
- General features of human chromosomes
- Families of reiterated sequences account for about one-third of the human genome
- Many structural genes occur in small families of closely related sequences
- Most protein-coding genes have a complex internal organization
- Psuedogenes are common
- Structure and variation of specific genes
- Total number of human genes is unknown
- Gene mapping I: physical maps
- Gene mapping by somatic cell hybridization
- Gene mapping by in situ hybridization
- Isolation of individual chromosomes
- Top-down approach to molecular mapping
- Restriction maps and contig
- Construction: the bottom-up approach
- DNA sequencing
- Gene mapping, II: linkage analysis and genetic maps
- Restriction fragment length polymorphisms and linkage analysis in humans
- Linkage analysis with autosomal dominant diseases
- Linkage analysis with autosomal recessive diseases
- Linkage analysis can provide evidence of genetic heterogeneity
- Linkage equilibrium and disequilibrium.
- (cont) Identifying the genetic basis of disease
- Typical positional analysis experimental strategy
- Positional analysis and specific diseases
- Mutation: quantitative aspects
- Mutation rates in germ cells
- Impact of mutation on disease
- Somatic mutation in humans
- Mutation: qualitative aspects
- Mutations involving one or a few nucleotides
- Deletions and insertions
- Chromosomal mutations
- Dominance and recessiveness, penetrance and imprinting: some molecular explanations
- Molecular explanations of dominance and recessiveness
- Molecular explanations of incomplete penetrance and variable expressivity
- Genomic imprinting
- Genetic screening and prenatal diagnosis
- Genetic screening
- Prenatal diagnosis
- Treatment of genetic disease
- Gene therapy
- Traditional treatment modalities
- Genetic basis of cancer
- Oncogenes: growth promoters
- Tumor suppressor genes
- Functions of proto-oncogenes and oncogenes
- Role of oncogenes in tumor formation
- Genetics of the immune system
- B cells and the antibody response
- T cell response: cell-mediated immunity.
- (cont) Major histocompatibility complex
- Tolerance and autoimmunity
- Deficiency disorders of the immune system
- X and Y chromosomes
- Molecular biology of the X chromosome
- Molecular biology of the Y chromosome
- Patterns of inheritance
- Examples of X-linked diseases
- Mitochondrial genome and its pathology
- Mitochondrial structure and function
- Mitochondrial genetic diseases
- Human genome project
- Initial concerns
- Organization of the human genome project
- International scene.