Utilizing the chromosome "walking and and jumping" technique developed by Collins, the authors showed how they cloned the cystic fibrosis locus on the basis of its chromosomal location without the benefit of genomic rearrangements. They showed that the CF gene spans approximately 250,000 base pairs of genomic DNA. This was the first gene for a human disease discovered without a known protein sequence.

Order of authorship in the original publication: Rommens, Iannuzzi, et al..., Riordan, Tsui, Collins.

(Thanks to Juan Weiss for this reference and its interpretation.)

The authors first published a ‘map’ of the cystic fibrosis (CF) gene and on p. 1071, they published an illustration/schematic model of the predicted CFTR (cystic fibrosis transmembrane conductance
regulator). They first described a deletion mutation DeltaF508  (ΔF508) that was detected in both CF clones, which would result in a ‘loss’ of a phenyalanine residue at position 508 in the CF polypeptide.

Order of authorship in the original publication: Riordan, Rommens, et al, Collins, Tsui.

(Thanks to Juan Weiss for this reference and its interpretation.)