Biopolym. Cell. 2001; 17(4):319-324.
http://dx.doi.org/10.7124/bc.0005BF
Molecular Biomedicine
Mutation analysis of CFTR gene by DGGE method In CF patients from West Ukraine
1Makukh H. V., 2Kocheva S., 1Zastavna D. V., 1Kornijenko Y. O., 1Hnatejko O. Z.
  1. Institute of Hereditary Pathology MAS of Ukraine
    31a, Lysenko Str., Lviv, Ukraine, 79008
  2. Research Center for Genetic Engineering and Biotechnology Macedonian Academy of Sciences and Arts
    2, Krste Misirkov Bld. 1000 Skopje, Republic of Macedonia

Abstract

The results of DNA analysis of 60 non-delF508 chromosomes from West Ukraine patients with high risk of CF are shown. The spectrum of CF mutations was determined in J5 CFTR gene exons using DGGE method. The frequencies of CF mutations are found to be: G542X (exon 11) –3,7 %; W1282X (exon 20) – 3,4 %; N1303K (exon 21) – 3,4 %. Besides we found some polymorphic gene variants, which can be used as markers for prenatal CF diagnostics.
Full text: (PDF, in Ukrainian)

References

[1] Gorovenko NG. Agreed recommendations for diagnosis, treatment and prevention of cystic fibrosis. Ukr Pulmonol Zh. 1999;1;14-7.
[2] Gorovenko NG. Standard methods of diagnosis and treatment of patients of all ages with cystic fibrosis. Ukr Med Chasopys. 1999; 13(5):43-9.
[3] Livshyts? LA, Kravchenko SA, Hryshko VI, Malyarchuk SH, Ekyyiyyan OYu, Nechyporenko MV, Pampukha VM, Bychkova NM, Barylyak IP, Mykhaylets? MP, Sopko MI, Skyban HV, Antypkin YuH, Luk?yanova OM, Buzhiyevs?ka TI, Matsuka GKh. DNA diagnosis of the most common inherited diseases in Ukraine monogenic nature (10 years of experience in DNA diagnostics in Ukraine). Perynatolohiya ta pediatriya. 2000; 1:3-7.
[4] Coll?e JM, de Vries HG, Scheffer H, Halley DJ, ten Kate LP. Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country. Hum Genet. 1998;102(5):587-90.
[5] Dequeker E, Cuppens H, Dodge J, Estivill X, Goossens M, Pignatti PF, Scheffer H, Schwartz M, Schwarz M, T?mmler B, Cassiman JJ. Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis. Eur J Hum Genet. 2000;8 Suppl 2:S2-24.
[6] Macek MJr, Macek M, Krebsova A, Dork T, Dequeker E, Cassiman JJ, the INCO-BIOMED CF Mutation Analysis Consortium Distribution and ethnic origin of 151 cystic fibrosis mutations in Balkans, Central and Eastern European populations: Abstr. 4-th Int. Symp. for Cystic Fibrosis (Hungary). Budapest, 2000;11.
[7] De Braekeleer M, Mari C, Verlingue C, Allard C, Leblanc JP, Simard F, Aubin G, F?rec C. Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada). Clin Genet. 1998;53(1):44-6.
[8] Estivill X, Bancells C, Ramos C. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Hum Mutat. 1997;10(2):135-54.
[9] Livshyts' LA. A molecular genetic analysis of the mutations in the exons of the CFTR gene in cystic fibrosis patients in Ukraine. Tsitol Genet. 2000;34(4):6-9.
[10] Livshits LA, Kravchenko SA, Musienko SI, Maliarchuk SG. [An analysis of the mutations in the mucoviscidosis gene: the origin and distribution of the delF508 major mutation in Ukraine]. Tsitol Genet. 1995;29(6):67-73.
[11] Livshits LA. Nature, origin and ways of spreading of monogenic hereditary disease mutations: Auth Thesis. ... Dr biol Nauk. Kyiv, 2001; 36 p.
[12] Kornienko YuO, Makukh GV, Fomenko NM, Kossak IB. Identification of mutations in the gene delF508 and G542X TRBM in the Western regional population. Praktychna Medytsyna. 1999;5-6: 6-9.
[13] Costes B, Fanen P, Goossens M, Ghanem N. A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations. Hum Mutat. 1993;2(3):185-91.
[14] Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics. 1992;13(3):770-6.
[15] Bienvenu T, Lepercq J, Allard JP, Hubert D, Francoual C, Beldjord C, Kaplan JC. Compound heterozygotes for a CF mutation and the 5T splice variant associated with variable presentations in a French family. Ann Genet. 1998;41(1):63-4.