Human genetics : the molecular revolution /
McConkey, Edwin H.
Boston, Mass. ; London : Jones and Bartlett Publishers,
c1993.
Includes bibliographical references and index.
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.
Human genetics.
Human molecular genetics.