With current gene markers, presymptomatic diagnosis of heritable disease is still a family affair

Journal Article · Fri Sep 04 04:00:00 EDT 1987 · JAMA, J. Am. Med. Assoc.; (United States)

OSTI ID:5903466

In the last four years, genes or genetic markers have been identified for a host of disorders including Huntington's disease, cystic fibrosis, Duchenne muscular dystrophy, polycystic kidney disease, bipolar depressive disorder, retinoblastoma, Alzheimer's disease, and schizophrenia. Such discoveries have made it possible to diagnose in utero some 30 genetic diseases during the first trimester of pregnancy. Yet, while these newly discovered gene markers may be revolutionizing prenatal and presymptomatic diagnosis, they are in many respects halfway technology. Such was the opinion of several speakers at a conference sponsored by the American Medical Association in Washington, DC. At the conference, entitled DNA Probes in the Practice of Medicine, geneticists emphasized that gene markers - stretches of DNA that are usually inherited in tandem with a disease gene - are usually not sufficient for presymptomatic diagnosis of genetic disease in an individual.

• OSTI ID: 5903466
• Journal Information: JAMA, J. Am. Med. Assoc.; (United States), Journal Name: JAMA, J. Am. Med. Assoc.; (United States) Vol. 258:9; ISSN JAMAA
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ANIMALS
BIOLOGICAL MARKERS
DIAGNOSIS
DISEASES
DNA
DNA SEQUENCING
HEREDITARY DISEASES
MAMMALS
MAN
MOLECULAR BIOLOGY
NUCLEIC ACIDS
ORGANIC COMPOUNDS
PRIMATES
STRUCTURAL CHEMICAL ANALYSIS
VERTEBRATES