Abstract
A collaborative study involving seven research groups provided an opportunity to investigate the linkage relationships between cystic fibrosis and two DNA marker loci, MET and pJ3.11 (D7S8), on an extended sample of 211 tested families. The maximum lod scores, recombination estimates, and confidence upper bounds (in parentheses) were 91.0 at θ = .004 (.012) for CF and MET, 71.3 at θ = .003 (.011) for CF and D7S8, and 69.3 at θ = .018 (.036) for MET and D7S8. Three-locus analyses yielded best support for the order MET-CF-D7S8, with odds against the alternate orders CF-MET-D7S8 and CF-D7S8-MET of 9:1 and 161:1, respectively. However, the number of observed recombinants was small and only one of the recombinants was jointly informative for all three markers. Significant allelic association was found between CF and both MET and D7S8. Weaker association between the latter two loci is consistent with the order MET-CF-D7S8.
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- Bowcock A. M., Crandall J., Daneshvar L., Lee G. M., Young B., Zunzunegui V., Craik C., Cavalli-Sforza L. L., King M. C. Genetic analysis of cystic fibrosis: linkage of DNA and classical markers in multiplex families. Am J Hum Genet. 1986 Dec;39(6):699–706. [PMC free article] [PubMed] [Google Scholar]
- Buchwald M., Zsiga M., Markiewicz D., Plavsic N., Kennedy D., Zengerling S., Willard H. F., Tsipouras P., Schmiegelow K., Schwartz M. Linkage of cystic fibrosis to the pro alpha 2(I) collagen gene, COL1A2, on chromosome 7. Cytogenet Cell Genet. 1986;41(4):234–239. doi: 10.1159/000132235. [DOI] [PubMed] [Google Scholar]
- Conneally P. M., Edwards J. H., Kidd K. K., Lalouel J. M., Morton N. E., Ott J., White R. Report of the Committee on Methods of Linkage Analysis and Reporting. Cytogenet Cell Genet. 1985;40(1-4):356–359. doi: 10.1159/000132186. [DOI] [PubMed] [Google Scholar]
- Eiberg H., Mohr J., Schmiegelow K., Nielsen L. S., Williamson R. Linkage relationships of paraoxonase (PON) with other markers: indication of PON-cystic fibrosis synteny. Clin Genet. 1985 Oct;28(4):265–271. doi: 10.1111/j.1399-0004.1985.tb00400.x. [DOI] [PubMed] [Google Scholar]
- Knowlton R. G., Cohen-Haguenauer O., Van Cong N., Frézal J., Brown V. A., Barker D., Braman J. C., Schumm J. W., Tsui L. C., Buchwald M. A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7. 1985 Nov 28-Dec 4Nature. 318(6044):380–382. doi: 10.1038/318380a0. [DOI] [PubMed] [Google Scholar]
- Lathrop G. M., Lalouel J. M. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984 Mar;36(2):460–465. [PMC free article] [PubMed] [Google Scholar]
- Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Scambler P. J., Wainwright B. J., Farrall M., Bell J., Stanier P., Lench N. J., Bell G., Kruyer H., Ramirez F., Williamson R. Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications. Lancet. 1985 Nov 30;2(8466):1241–1242. doi: 10.1016/s0140-6736(85)90765-2. [DOI] [PubMed] [Google Scholar]
- Tsui L. C., Buchwald M., Barker D., Braman J. C., Knowlton R., Schumm J. W., Eiberg H., Mohr J., Kennedy D., Plavsic N. Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science. 1985 Nov 29;230(4729):1054–1057. doi: 10.1126/science.2997931. [DOI] [PubMed] [Google Scholar]
- Tsui L. C., Buetow K., Buchwald M. Genetic analysis of cystic fibrosis using linked DNA markers. Am J Hum Genet. 1986 Dec;39(6):720–728. [PMC free article] [PubMed] [Google Scholar]
- Wainwright B. J., Scambler P. J., Schmidtke J., Watson E. A., Law H. Y., Farrall M., Cooke H. J., Eiberg H., Williamson R. Localization of cystic fibrosis locus to human chromosome 7cen-q22. 1985 Nov 28-Dec 4Nature. 318(6044):384–385. doi: 10.1038/318384a0. [DOI] [PubMed] [Google Scholar]
- White R., Leppert M., O'Connell P., Nakamura Y., Woodward S., Hoff M., Herbst J., Dean M., Vande Woude G., Lathrop G. M. Further linkage data on cystic fibrosis: the Utah Study. Am J Hum Genet. 1986 Dec;39(6):694–698. [PMC free article] [PubMed] [Google Scholar]
- White R., Woodward S., Leppert M., O'Connell P., Hoff M., Herbst J., Lalouel J. M., Dean M., Vande Woude G. A closely linked genetic marker for cystic fibrosis. 1985 Nov 28-Dec 4Nature. 318(6044):382–384. doi: 10.1038/318382a0. [DOI] [PubMed] [Google Scholar]