DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis

B. S. Kerem, J. A. Buchanan, P. Durie, M. L. Corey, H. Levison, J. M. Rommens, M. Buchwald, L. C. Tsui

Research output: Contribution to journalArticlepeer-review

83 Scopus citations


Patients with cystic fibrosis (CF) generally suffer from chronic obstructive lung disease, pancreatic insufficiency (PI), and a number of other exocrine malfunctions. Approximately 15% of CF patients are, however, pancreatic sufficient. To investigate whether the two clinical subgroups, PI and pancreatic sufficiency (PS), are caused by different CF mutant alleles, we have performed linkage disequilibrium and haplotype association analysis with three DNA markers that are tightly linked to the CF locus. The study showed that the allelic and haplotype distributions for these RFLPs are significantly different between the two groups. The data suggest that most of the CF-PI patients are probably descendants of a single mutational event at the CF locus and that the CF-PS patients resulted from multiple, different mutations. While final interpretation of these data awaits molecular cloning of the CF gene, the information on haplotype association in CF may be useful in genetic counseling and disease prognosis, in identifying the gene itself, and in defining the mutations.

Original languageAmerican English
Pages (from-to)827-834
Number of pages8
JournalAmerican Journal of Human Genetics
Issue number6
StatePublished - 1989
Externally publishedYes


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