Cloning the Gene for the Inherited Disorder Chronic Granulomatous Disease on the Basis of Its Chromosomal Location
- B. Royer-Pokora*,
- L.M. Kunkel†,
- A.P. Monaco†,
- S.C. Goff*,
- P.E. Newburger‡,
- R.L. Baehner*,
- F.S. Cole**,
- J.T. Curnutte§, and
- S.H. Orkin*,¶
- *Division of Hematology-Oncology, Childrens Hospital, Dana-Farber Cancer Institute, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115
- †Division of Genetics, Childrens Hospital, Department of Pediatrics and the Program in Neuroscience, Harvard Medical School, Boston, Massachusetts 02115
- **Division of Cell Biology, Childrens Hospital, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115
- ‡Division of Pediatric Hematology Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts 01605
- §Division of Pediatric Hematology, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan 48109
- ¶Howard Hughes Medical Institute, Childrens Hospital, Boston, Massachusetts 02115
This extract was created in the absence of an abstract.
Excerpt
Human inherited disorders often result from mutations in genes whose protein products are unknown. In principle, gene cloning procedures may be employed to isolate and characterize such genes without reference to protein data. Subsequently, the protein encoded by a gene of this kind may be detected using antibody reagents prepared from synthetic peptides predicted by cDNA sequences or from polypeptides expressed in prokaryotic cells. In this manner, new insights into a cell biologic system may ultimately be gained through study of human disease.
The use of genetic linkage (Botstein et al. 1980) to provide a rough location of a disease gene within the chromosome complement has been viewed as a first step in this venture. Three major diseases of uncertain etiology, Duchenne muscular dystrophy (DMD) (Davies et al. 1983; Monaco et al. 1985), Huntington's disease (Gusella et al. 1983), and cystic fibrosis (Knowlton et al. 1985; Wainwright et al. 1985;...