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Nucleic Acids Research, 1990, Vol. 18, No. 2 345-350
© 1990

MOLECULAR BIOLOGY

Approaches to localizing disease genes as applied to cystic fibrosis

Michael Dean*, Mitchell L. Drumm1, Claudia Stewart, Bernard Gerrard, Anjanette Perry, Noriko Hidaka1, Jeffery L. Cole1, Francis S. Collins1 and Michael C. Iannuzzi1

Biological Carcinogenesis and Development Program, Program Resources, Inc., NCI-Frederick Cancer Research Facility Frederick, MD 21701, USA 1Howard Hughes Medical Institute, University of Michigan Ann Arbor, MI 48109, USA

* To whom correspondence should be addressed

Received September 6, 1989. Revised November 30, 1989. Accepted November 30, 1989.

Using chromosome jumping and walking and restriction fragment length polymorphism (RFLP) analysis, we have defined the region which must contain the cystic fibrosis gene. DNA segments spanning approximately 250 kb in the direction of the gene were isolated and used to identify several new polymorphisms informative in cystic fibrosis families. These RFLPs include a highly polymorphic, CA/GT repeat, and a 10 bp insertion uncovered using the polymerase chain reaction. By analyzing a family with a recombination near the gene, we can exclude this region as containing the mutation. Data on the extent of linkage disequilibrium of these markers provides additional information on where the gene is located.


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E. Green and M. Olson
Chromosomal region of the cystic fibrosis gene in yeast artificial chromosomes: a model for human genome mapping
Science, October 5, 1990; 250(4977): 94 - 98.
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