Nucleic Acid Probes in Diagnosis of Human Genetic Diseases Reviews the basic terminology and techniques of nucleic acid probes, how such probes can be used in the detection and analysis of human genetic disorders, and the impact of this technology on public health care services and on affected individuals and their families. Addresses use of nucleic acid probes in prenatal and carrier detection of Duchenne muscular dystrophy, the cystic fibrosis region of chromosome 7, and the fragile X chromosome. Also discusses ethical issues raised by use of this technology, the role of regulatory agencies, and the establishment of a centralized DNA-based genetic reference laboratory. |
