Spence, J E, C L Rosenbloom, W E O’Brien, D K Seilheimer, S Cole, R E Ferrell, R C Stern, and A L Beaudet. 1986. “Linkage of DNA Markers to Cystic Fibrosis in 26 Families.”. American Journal of Human Genetics 39 (6): 729-34.
Abstract
Two DNA markers, the met oncogene and the anonymous probe, pJ3.11, previously reported to be tightly linked to cystic fibrosis (CF), were used for linkage analysis in 26 families with two or more individuals affected with CF. A new high frequency polymorphism was identified using BanI and the pmetD probe. The results of linkage analysis were as follows: between met and CF, lod score of 18.2 at theta of .009; between pJ3.11 and CF, lod score of 12.1 at theta of 0; and between met and pJ3.11, lod score of 16.7 at theta of 0. These data indicate that most or all of CF is due to an abnormality at a single locus and that the DNA markers are useful for prenatal diagnosis and heterozygote detection within affected families.