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. 1990 Jan 25;18(2):345–350. doi: 10.1093/nar/18.2.345

Approaches to localizing disease genes as applied to cystic fibrosis.

M Dean 1, M L Drumm 1, C Stewart 1, B Gerrard 1, A Perry 1, N Hidaka 1, J L Cole 1, F S Collins 1, M C Iannuzzi 1
PMCID: PMC330273  PMID: 1970161

Abstract

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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