Biopolym. Cell. 1994; 10(3-4):58-62.
A methodological approach allowing a faster and easier procedure for identification of ΔF508 in CFTR gene
1Gusak N. M., 1Gorownko N. G., 1Homenko N. L., 1Buzhievskaya T. I.
  1. Kyiv State Institute for Advanced Training of Physicians
    9, Dorohozhytska St., Kyiv, Ukraine, 04112

Abstract

The procedure consisted of two steps (direct amplification of DNA from dried blood spots and identification of mutation with the modified method of diagnostic heteroduplexes) was proposed to test the most common mutation in the cystic fibrosis transmembrane regulator gene (ΔF508). The advantages of this approach for screening of different population groups are discussed. The procedure was used to examine 21 families with positive history of CF.

References

[1] Harris M, Super M. Cystic fibrosis. The fact. Oxford : Univ. press, 1987. 133 p.
[2] 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.
[3] 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.
[4] Cystic fibrosis. Eds J. A. Dodge, D. J. H. Brock et al. Chichester: John Wiley and sons, 1993. Vol. 2. 358 p.
[5] Kravchenko SA, Livshits LA. An analysis of mutations in the 7th, 10th and 11th exons and of the polymorphism of the 4 nucleotide tandem repeats from the 3' end of the 6th intron of the CFTR gene in families from Ukraine with a high risk of mucoviscidosis. Tsitol Genet. 1993;27(4):72-7.
[6] Baranov VS. Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future. J Med Genet. 1993;30(2):141-6.
[7] Wenham PR. DNA-based techniques in clinical biochemistry: a beginner's guide to theory and practice. Ann Clin Biochem. 1992;29 ( Pt 6):598-624.
[8] Kerem BS, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan JR, Collins FS, Rommens JM, et al. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci U S A. 1990;87(21):8447-51.
[9] Rommens J, Kerem BS, Greer W, Chang P, Tsui LC, Ray P. Rapid nonradioactive detection of the major cystic fibrosis mutation. Am J Hum Genet. 1990;46(2):395-6.
[10] Schwartz EI, Khalchitsky SE, Eisensmith RC, Woo SL. Polymerase chain reaction amplification from dried blood spots on Guthrie cards. Lancet. 1990;336(8715):639-40.
[11] Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, Rommens J, Tsui LC. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics. 1991;10(1):214-28.
[12] Nagamine CM, Chan K, Lau YF. A PCR artifact: generation of heteroduplexes. Am J Hum Genet. 1989;45(2):337-9.
[13] Triggs-Raine BL, Gravel RA. Diagnostic heteroduplexes: simple detection of carriers of a 4-bp insertion mutation in Tay-Sachs disease. Am J Hum Genet. 1990;46(1):183-4.
[14] Handyside AH, Lesko JG, TarГ­n JJ, Winston RM, Hughes MR. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med. 1992;327(13):905-9.
[15] Cuppens H, Loumi O, Marynen P, Cassiman JJ. Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population. Hum Mol Genet. 1992;1(4):283-4.