Linkage of DNA Markers to Cystic Fibrosis in 26 Families

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1986 Dec 1

PMID 2879439

Citations 10

Authors

J E Spence

C L Rosenbloom

W E OBrien

D K Seilheimer

S Cole

R E Ferrell

R C Stern

A L Beaudet

Affiliations

Soon will be listed here.

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.

Citing Articles

Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis.

Spence J, Buffone G, Rosenbloom C, Fernbach S, Curry M, Carpenter R Hum Genet. 1987; 76(1):5-10.

PMID: 3471704 DOI: 10.1007/BF00283042.

Genetic markers on chromosome 7.

Tsui L J Med Genet. 1988; 25(5):294-306.

PMID: 3290488 PMC: 1050454. DOI: 10.1136/jmg.25.5.294.

Cystic fibrosis.

Harwood I, Rosas F, Edwards D, Kelso J, Nyhan W West J Med. 1988; 148(1):62-9.

PMID: 3277338 PMC: 1026012.

Uniparental disomy as a mechanism for human genetic disease.

Spence J, Perciaccante R, Greig G, Willard H, Ledbetter D, Hejtmancik J Am J Hum Genet. 1988; 42(2):217-26.

PMID: 2893543 PMC: 1715272.

Genealogical analysis of cystic fibrosis families and chromosome 7q RFLP haplotypes in the Hutterite Brethren.

Fujiwara T, Morgan K, Schwartz R, Doherty R, Miller S, Klinger K Am J Hum Genet. 1989; 44(3):327-37.

PMID: 2563632 PMC: 1715435.

References

White R, Woodward S, Leppert M, OConnell P, Hoff M, Herbst J . A closely linked genetic marker for cystic fibrosis. Nature. 1985; 318(6044):382-4. DOI: 10.1038/318382a0. View

Knowlton R, Cohen-Haguenauer O, Van Cong N, FREZAL J, Brown V, Barker D . A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7. Nature. 1985; 318(6044):380-2. DOI: 10.1038/318380a0. View

Bartels I, Grzeschik K, Cooper D, Schmidtke J . Regional mapping of six cloned DNA sequences on human chromosome 7. Am J Hum Genet. 1986; 38(3):280-7. PMC: 1684786. View

Beaudet A, Bowcock A, Buchwald M, CAVALLI-SFORZA L, Farrall M, King M . Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study. Am J Hum Genet. 1986; 39(6):681-93. PMC: 1684135. View

Miller G, Lipman M . Release of infectious Epstein-Barr virus by transformed marmoset leukocytes. Proc Natl Acad Sci U S A. 1973; 70(1):190-4. PMC: 433213. DOI: 10.1073/pnas.70.1.190. View

Ott J . Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet. 1974; 26(5):588-97. PMC: 1762722. View

Botstein D, White R, Skolnick M, Davis R . Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet. 1980; 32(3):314-31. PMC: 1686077. View

Bird A, McLachlan S, Britton S . Cyclosporin A promotes spontaneous outgrowth in vitro of Epstein-Barr virus-induced B-cell lines. Nature. 1981; 289(5795):300-1. DOI: 10.1038/289300a0. View

Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster T . A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet. 1984; 36(3):546-64. PMC: 1684472. View

10.

Cooper C, Park M, Blair D, Tainsky M, Huebner K, Croce C . Molecular cloning of a new transforming gene from a chemically transformed human cell line. Nature. 1984; 311(5981):29-33. DOI: 10.1038/311029a0. View

11.

Brock D . A comparative study of microvillar enzyme activities in the prenatal diagnosis of cystic fibrosis. Prenat Diagn. 1985; 5(2):129-34. DOI: 10.1002/pd.1970050206. View

12.

Muller F, Berg S, Frot J, Boue J, BOUE A . Prenatal diagnosis of cystic fibrosis. I. Prospective study of 51 pregnancies. Prenat Diagn. 1985; 5(2):97-108. DOI: 10.1002/pd.1970050203. View

13.

Tsui L, Buchwald M, Barker D, Braman J, Knowlton R, Schumm J . Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science. 1985; 230(4729):1054-7. DOI: 10.1126/science.2997931. View

14.

Eiberg H, Mohr J, Schmiegelow K, Nielsen L, Williamson R . Linkage relationships of paraoxonase (PON) with other markers: indication of PON-cystic fibrosis synteny. Clin Genet. 1985; 28(4):265-71. DOI: 10.1111/j.1399-0004.1985.tb00400.x. View

15.

Wainwright B, Scambler P, Schmidtke J, Watson E, Law H, Farrall M . Localization of cystic fibrosis locus to human chromosome 7cen-q22. Nature. 1985; 318(6044):384-5. DOI: 10.1038/318384a0. View