Biopolym. Cell. 1991; 7(2):86-91.
Discussions
Disequilibrium linkage between polymorphism of the restriction fragments length in human chromosome 7 with mutations in mucoviscidosis gene in the Ukrainian population
1Livshits L. A., 1Kravchenko S. A., 1Grishko V. I., 1Buzhievskaya T. I., 1Baranov V. S.
  1. Institute of Molecular Biology and Genetics, NAS of Ukraine
    150, Akademika Zabolotnoho Str., Kyiv, Ukraine, 03680

Abstract

DNA analysis of deletion delta F508 was performed in 37 Ukrainian cystic fibrosis families with 1 : 25 rise of cystic fibrosis and 100 healthy donors used PCR technology. A delation of three base pairs was detected in 65 percent of chromosomes carrying cystic fibrosis mutation. The linkage analysis between three polymorphic markers (KM-19, CS.7, D7S8) and cystic fibrosis mutations was performed. The linkage disequilibrium was found between RFLP-gaplotypes of chromosome 7 (KM-19/PstI and CS7/Hin61) and CF-deletion delta F508. weaker but significant disequlibrium was found between KM-19/PstI and CS.7/Hin61 and unknown one. The linkage between these markes and CF-mutations for the Ukrainian population permit to perform accurate pre- and postnatal diagnosis cystic fibrosis in most families with affected persons and also allows carriers detection in population.

References

[1] Harris M, Super M. Cystic fibrosis. The fact. Oxford : Univ. press, 1987. 133 p.
[2] Tsui LC. Genetic markers on chromosome 7. J Med Genet. 1988;25(5):294-306.
[3] Feldman GL, Williamson R, Beaudet AL, O'Brien WE. Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism. Lancet. 1988;2(8602):102.
[4] Northrup H, Rosenbloom C, O'Brien WE, Beaudet AL. Additional polymorphism for D7S8 linked to cystic fibrosis including detection by DNA amplification. Nucleic Acids Res. 1989;17(4):1784.
[5] 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.
[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] Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989;245(4922):1059-65.
[8] Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245(4922):1066-73.
[9] Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989;245(4922):1073-80.
[10] Wehnert M, Herrmann FH, Metzke H, Thiele H, Vogel G, Kuhnert W, Ebener U, Wulff K. Initial results of genetic carrier diagnosis in risk pedigrees with hemophilia A and B in East Germany. Z Gesamte Inn Med. 1988;43(16):441-4.
[11] Livshitz LA, Gryshko VI, Kravchenko SA, Ivashchenko TE, Baranov VS, Buzhievskaya TI. Analysis of DNA polymorphism in the regions closely linked with cystic fibrosis gene in Kiev population. Biopolym Cell. 1990; 6(2):60-4.
[12] Livshits LA, Gorovenko NG, Ivashchenko TE, Buzhievskaia TI. The importance of medical genetics study for the early diagnosis of mucoviscidosis. Vrach Delo. 1990;(4):101-3.
[13] Maniatis T, Fritsch EF, Sambrook J. Molecular cloning: a laboratory manual. New York: Cold Spring Harbor Lab, 1982; 545 p.
[14] Lakin GF. Biometrics. Vysshaya Shkola, 1980. 293 p.