Human Genetics: The Molecular RevolutionJones and Bartlett Publishers, 1993 - 322 pages Begins with molecular characterization of the human genome (rather than the conventional descriptions of Mendelian inheritance, pedigree analysis, and chromosome abnormalities), and maintains this emphasis on understanding human genetics in molecular terms throughout. Suitable as a text for biology |
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abnormal activity affected persons alpha-globin amino acid amplified antibodies antigen assay autosomal dominant average bind cause cDNA chain Chapter chromo clone coding codon contain copies crossing-over crossovers cystic fibrosis deletion detected diagrammed disease locus DNA molecules DNA sequences dystrophin dystrophy electrophoresis encoded example exon expression females Figure fragments frequency function gamete gene mapping gene therapy genetic diseases genotype globin haplotypes heterozygotes homozygotes homozygous HPRT human chromosomes human genome hybrid cells identified inactivation inheritance introns kinase known linkage analysis lod score males marker loci matings method methylation molecular mRNA mutant alleles mutation rate normal nucleotide occur oncogene pairs parents patients pedigree phenotype polymerase polymorphic polypeptide possible present primers probe produce protein receptor recessive allele recessive lethal recombination region restriction enzyme result RFLPs screening somatic cell Southern blotting specific splice syndrome tion tissues transcription translocation tumor X chromosome X-linked zygote