Biopolym. Cell. 1990; 6(2):65-71.
Population and family analysis of polymorphism of DNA sequences linked to the cystic fibrosis gene
1Voronina O. V., 1Gaitskhoki V. S., 2Ivashchenko T. E., 2Baranov V. S., 2Gorbunova V. N., 1Kalinin V. M., 3Livshitz L. A., 2, 4Venozhinskas M. T.
  1. Institute of Experimental Medicine, Academy of Medical Sciences of the USSR
    Leningrad, USSR
  2. Institute of Obstetrics and Gynecology, Academy of Medical Sciences of the USSR
    Leningrad, USSR
  3. Institute of Molecular Biology and Genetics, Academy of Sciences of the Ukrainian SSR
    Kiev, USSR
  4. Institute for Protection of Mothers and Children, Ministry of Public Health of the Lithuanian SSR
    Vilnius, USSR

Abstract

The allelic polymorphism of human DNA loci linked to cystic fibrosis gene (D7S8, Met and D7S23) was studied using blot hybridization and polymerase chain reaction in the populations of healthy donors in Leningrad and in donors from Moscow (D7S8) and Kiev (Met). The restriction fragment length polymorphism (RELP) in Leningrad and Kiev populations corresponds to RELP found in Northern Europe countries while in Moscow population a shift in the allele frequencies is observed, that appears to depend upon the contribution of mongoloids having very low frequency of cystic fibrosis. The marked, linkage disequilibrium between cystic fibrosis mutation and particular RELP alleles in D7S23 locus (KM.19 and XV-2c probes) is found in the affected families.

References

[1] Harris M, Super M. Cystic fibrosis. The fact. Oxford : Univ. press, 1987. 133 p.
[2] Collins FS, Drumm ML, Cole JL, Lockwood WK, Vande Woude GF, Iannuzzi MC. Construction of a general human chromosome jumping library, with application to cystic fibrosis. Science. 1987;235(4792):1046-9.
[3] Estivill X, Frederick P, Wainwright B et al. Linkage disequilibrium and the origins of cystic fibrosis. Excerpta med. Int. Congr. Ser. 1988; 74: 9-10.
[4] Schmidtke J, Krawczak M, Schwartz M, Alkan M, Bonduelle M, Bühler E, Chemke M, Darnedde T, Domagk J, Engel W, et al. Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci. Hum Genet. 1987;76(4):337-43.
[5] Martin RK, Kaplan GC, Hodge TW, Barker PE. Cystic fibrosis DNA markers in Alabama blacks. Genomics. 1988;3(4):385-8.
[6] Krawczak M, Konecki DS, Schmidtke J, Dück M, Engel W, Nützenadel W, Trefz FK. Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families. Hum Genet. 1988;80(1):78-80.
[7] Estivill X, Scambler PJ, Wainwright BJ, Hawley K, Frederick P, Schwartz M, Baiget M, Kere J, Williamson R, Farrall M. Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics. 1987;1(3):257-63.
[8] Maniatis T., Fritsch E. F., Sambrook J. Molecular cloning: a laboratory manual. New York: Cold Spring Harbor Lab. press, 1982 545 p.
[9] Bell GI, Karam JH, Rutter WJ. Polymorphic DNA region adjacent to the 5' end of the human insulin gene. Proc Natl Acad Sci U S A. 1981;78(9):5759-63.
[10] Southern EM. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975;98(3):503-17.
[11] Goodchild M. C., Dodge J. A. Cystic fibrosis. Manual of diagnosis and treatment - London : Bailliere Tindall, 1985; 212 p.
[12] Strain L, Curtis A, Mennie M, Holloway S, Brock DJ. Use of linkage disequilibrium data in prenatal diagnosis of cystic fibrosis. Hum Genet. 1988;80(1):75-7.
[13] Estivill X, Farrall M, Williamson R, Ferrari M, Seia M, Giunta AM, Novelli G, Potenza L, Dallapicolla B, Borgo G, et al. Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study. Am J Hum Genet. 1988;43(1):23-8.