DOI: 10.1126/science.2997931. Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic DNA Marker

Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic DNA Marker

10.1126/science.2997931

Crossref journal-article

American Association for the Advancement of Science (AAAS)

Science (221)

Abstract

A polymorphic DNA marker has been found genetically linked, in a set of 39 human families, to an autosomal recessive gene that causes cystic fibrosis (CF), a disease affecting one in 2000 Caucasian children. The DNA marker (called D0CRI-917 ) is also linked to the PON locus, which by independent evidence is linked to the CF locus. The best estimates of the genetic distances are 5 centimorgans between the DNA marker and PON and 15 centimorgans between the DNA marker and the CF locus, meaning that the location of the disease gene has been narrowed to about 1 percent of the human genome (about 30 million base pairs). Although the data are consistent with the interpretation that a single locus causes cystic fibrosis, the possibility of genetic heterogeneity remains. The discovery of a linked DNA polymorphism is the first step in molecular analysis of the CF gene and its causative role in the disease.

Bibliography

Tsui, L.-C., Buchwald, M., Barker, D., Braman, J. C., Knowlton, R., Schumm, J. W., Eiberg, H., Mohr, J., Kennedy, D., Plavsic, N., Zsiga, M., Markiewicz, D., Akots, G., Brown, V., Helms, C., Gravius, T., Parker, C., Rediker, K., & Donis-Keller, H. (1985). Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic DNA Marker. Science, 230(4729), 1054â1057.

Authors 19

Lap-Chee Tsui (first)
Manuel Buchwald (additional)
David Barker (additional)
Jeffrey C. Braman (additional)
Robert Knowlton (additional)
James W. Schumm (additional)
Hans Eiberg (additional)
Jan Mohr (additional)
Dara Kennedy (additional)
Natasa Plavsic (additional)
Martha Zsiga (additional)
Danuta Markiewicz (additional)
Gita Akots (additional)
Valerie Brown (additional)
Cynthia Helms (additional)
Thomas Gravius (additional)
Carol Parker (additional)
Kenneth Rediker (additional)
Helen Donis-Keller (additional)

References 41 Referenced 316

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Dates

Type	When
Created	18 years, 10 months ago (Oct. 5, 2006, 3:42 p.m.)
Deposited	1 year, 7 months ago (Jan. 13, 2024, 10:31 a.m.)
Indexed	1 month ago (July 26, 2025, 4:49 a.m.)
Issued	39 years, 9 months ago (Nov. 29, 1985)
Published	39 years, 9 months ago (Nov. 29, 1985)
Published Print	39 years, 9 months ago (Nov. 29, 1985)

Funders 0

None

BibTeX

@article{Tsui_1985, title={Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic DNA Marker}, volume={230}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.2997931}, DOI={10.1126/science.2997931}, number={4729}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={Tsui, Lap-Chee and Buchwald, Manuel and Barker, David and Braman, Jeffrey C. and Knowlton, Robert and Schumm, James W. and Eiberg, Hans and Mohr, Jan and Kennedy, Dara and Plavsic, Natasa and Zsiga, Martha and Markiewicz, Danuta and Akots, Gita and Brown, Valerie and Helms, Cynthia and Gravius, Thomas and Parker, Carol and Rediker, Kenneth and Donis-Keller, Helen}, year={1985}, month=nov, pages={1054–1057} }

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