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The Journal of Bone and Joint Surgery 78:1583-98 (1996)
© 1996 The Journal of Bone and Joint Surgery, Inc.

Current Concepts Review

Current Concepts Review - Update on the Genetic Bases of Disorders with Orthopaedic Manifestations*

FREDERICK R. DIETZ, M.D.{dagger} and KATHERINE D. MATHEWS, M.D., IOWA CITY, IOWA

Investigation performed at the University of Iowa Hospitals and Clinics, Iowa City


   Introduction
 
New technology in molecular biology and quantitative analysis has led to an explosion of the knowledge and understanding of inherited diseases. Efforts to map the entire human genome have progressed further than had been expected. Gene therapy is being investigated for possible use in the treatment of a host of diseases, ranging from cystic fibrosis to cancer. Diagnosis before the development of symptoms is possible for people at risk for some diseases with a delayed onset, such as Huntington disease, Alzheimer disease, and familial breast cancer.

Advances in analytical and molecular tools in the 1980's made it feasible, for the first time, to begin sequencing the three billion nucleotides of DNA that make up the human genome. The Human Genome Project, an international effort, was initiated under the auspices of the human gene-mapping conferences and was formalized through the Human Genome Organization (HUGO). In the United States, the efforts have . . . [Full Text of this Article]


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