Summary
We analyzed DNA from 34 Polish and 63 Dutch cystic fibrosis (CF) patients and their families using the polymorphic markers XV2c and KM19, which are in linkage disequilibrium with the CF mutation. Strong linkage disequilibrium was found in the Dutch population sample, but the haplotypes of the Polish chromosomes showed a significantly less extreme disequilibrium. Our data and previous studies indicate that the highest degree of homogeneity of the CF defect and hence the best possible use of the XV2c/KM19/CF linkage disequilibrium for CF carrier detection/exclusion is in populations of northern European origin.
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References
Bailey BJR (1980) Large sample simultaneous confidence intervals for the multinomial probabilities based on transformations of the cell frequencies. Technometrics 22:583–589
Beaudet A, Bowcock A, Buchwald M, Cavalli-Sforza L, Farrall M, King M-C, Klinger K, Lalouel J-M, Naylor S, Ott J, Tsui L-C, Wainwright B, Watkins P, White R, Williamson R (1986) Linkage of cystic fibrosis to tightly linked DNA markers: joint report from a collaborative study. Am J Hum Genet 39:681–693
Dean M, O'Connell P, Leppert M, Amos JA, Phillips DG, White R, Vande Woude GF (1987) Three additional DNA polymorphisms in the Met gene and D7S8 locus: use in prenatal diagnostics of cystic fibrosis. J Pediatr 111:490–495
Estivill X, Farrall M, Scambler PJ, Bell GM, Hawley KM, Lench N, Bates GP, Kruyer HC, Frederick PA, Stanier P, Watson EK, Williamson R, Wainwright B (1987a) A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. Nature 326:840–845
Estivill X, Scambler PJ, Wainwright BJ, Hawley K, Frederick P, Schwartz M, Baiget M, Kere J, Williamson R, Farrall M (1987b) Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics 1:257–263
Estivill X, Farrall M, Williamson R, Ferrari M, Seia M, Giunta AM, Novelli G, Potenza L, Dallapiccola B, Borgo G, Gasparini P, Pignatti PF, De Benedetti L, Vitale E, Devoto M, Romeo G (1988) Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study. Am J Hum Genet 43:23–28
Hout AH van der, Veen AY van der, Aten JA, Buys CHCM (1988) Localization of DNA probes with tight linkage to the cystic fibrosis locus by in situ hybridization using fibroblasts with a 7q22 deletion. Hum Genet 80:161–164
Knowlton RG, Cohen-Haguenauer O, Nguyen VC, Frezal J, Brown V, Barker D, Braman JC, Schumm JW, Tsui L-C, Buchwald M, Donis-Keller H (1985) A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7. Nature 318:380–382
Maniatis T, Fritsch EF, Sambrook J (eds) (1982) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
Scambler PJ, Wainwright BJ, Watson E, Bates G, Bell G, Williamson R, Farrall M (1986) Isolation of a further anonymous informative DNA sequence from chromosome 7 closely linked to cystic fibrosis. Nucleic Acids Res 14:1951–1956
Schmidtke J, Krawczak M, Schwartz M, Alkan M, Bonduelle M, Buhler E, Chemke M, Darnedde T, Domagk J, Frey D, Fryburg K, Halley D, Hundrieser J, Ladanyi L, Liebaers I, Lissens W, Machler M, Malik NJ, Morreau J, Neubaer W, Oostra B, Pape B, Poncin JE, Schinzel A, Simon P, Trefez FK, Tummler B, Vassart G, Voss R (1987) Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci. Hum Genet 76:337–343
Wainwright BJ, Scambler PJ, Schmidtke J, Watson EA, Law H-Y, Farrall M, Cooke HJ, Eiberg H, Williamson R (1985) Localization of the cystic fibrosis locus to human chromosome 7. Nature 318: 384–385
White R, Woodward S, Leppert M, O'Connell P, Nakamura Y, Hoff M, Herbst J, Lalouel J-M, Dean M, Vande Woude G (1985) A closely linked genetic marker for cystic fibrosis. Nature 318:382–384
Wilkinson L (1985) Systat, the system for statistics. Systat, Evanston, Ill
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Maciejko, D., Bal, J., Mazurczak, T. et al. Different haplotypes for cystic fibrosis-linked DNA polymorphisms in Polish and Dutch populations. Hum Genet 83, 220–222 (1989). https://doi.org/10.1007/BF00285159
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DOI: https://doi.org/10.1007/BF00285159