An Interactive Annotated World Bibliography of Printed and Digital Works in the History of Medicine and the Life Sciences from Circa 2000 BCE to 2022 by Fielding H. Garrison (1870-1935), Leslie T. Morton (1907-2004), and Jeremy M. Norman (1945- ) Traditionally Known as “Garrison-Morton”

15961 entries, 13944 authors and 1935 subjects. Updated: March 22, 2024

TSUI, Lap-Chee

3 entries
  • 13568

Identification of the cystic fibrosis gene: Chromosome walking and jumping.

Science, 245, 1059-1065, 1989.

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.)



Subjects: BIOLOGY › MOLECULAR BIOLOGY › Genomics, GENETICS / HEREDITY › GENETIC DISORDERS › Cystic Fibrosis
  • 13569

Identification of the cystic fibrosis gene: Cloning and characterization of complimentary DNA.

Science, 245, 1066-1072, 1989.

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.)



Subjects: BIOLOGY › MOLECULAR BIOLOGY › Genomics, GENETICS / HEREDITY › GENETIC DISORDERS › Cystic Fibrosis
  • 13570

Identification of the cystic fibrosis gene: Genetic analysis.

Science, 245, 1073-1080, 1989.

The authors demonstrated that about 70% of the crucial mutation in cystic fibrosis (CF) patients corresponds to the specific deletion of 3 base pairs, which results in the loss of a phenylalanine residue at A.A. position 508. This discovery provided a target for pharmacologists, molecular biologists and molecular geneticists to develop a biologic drug for the benefit of the majority of those afflicted with CF.

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

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



Subjects: BIOLOGY › MOLECULAR BIOLOGY › Genomics, GENETICS / HEREDITY › GENETIC DISORDERS › Cystic Fibrosis