Biopolym. Cell. 1994; 10(3-4):63-67.
Identification of the nonsense mutation W1282X in two cystic fibrosis families from Ukraine
- Kyiv State Institute for Advanced Training of Physicians
9, Dorohozhytska St., Kyiv, Ukraine, 04112
Abstract
It was previously estimated that the most common CF mutation in patient from Ukraine is ΔF508 (55 % of CF mutation). Other four mutation (R553X, G551D, R334W and 1677delTA) were estimated to account for 2,6 % of CF mutations. We report one more mutation — nonsense mutation W1282X, wich has not been found in CF patients from Ukraine before. We have screened 27 non ΔF508 chromosomes for this mutation. We found that two patients were compound heterozygote, both having ΔF508/W1282X genotype and moderately affected. One patient was of Ashkenazi-Ukrainian origin, another one was of Russian-Ukrainian origin. The mutation W1282X must be taken into account when performing molecular diagnosis and carrier detection for cystic fibrosis in Ukraine.
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References
[1]
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.
[2]
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.
[3]
Hyde SC, Emsley P, Hartshorn MJ, Mimmack MM, Gileadi U, Pearce SR, Gallagher MP, Gill DR, Hubbard RE, Higgins CF. Structural model of ATP-binding proteins associated with cystic fibrosis, multidrug resistance and bacterial transport. Nature. 1990;346(6282):362-5.
[4]
Bear CE, Duguay F, Naismith AL, Kartner N, Hanrahan JW, Riordan JR. Cl- channel activity in Xenopus oocytes expressing the cystic fibrosis gene. J Biol Chem. 1991;266(29):19142-5.
[5]
Riordan JR, Alon N, Grzelczak Z, Dubel S, Sun SZ. The CF gene product as a member of a membrane transporter (TM6-NBF) super family. Adv Exp Med Biol. 1991;290:19-29.
[6]
Anderson MP, Gregory RJ, Thompson S, Souza DW, Paul S, Mulligan RC, Smith AE, Welsh MJ. Demonstration that CFTR is a chloride channel by alteration of its anion selectivity. Science. 1991;253(5016):202-5.
[7]
Quinton PM. Cystic fibrosis: a disease in electrolyte transport. FASEB J. 1990;4(10):2709-17.
[8]
Mearns MB. Cystic fibrosis: the first 50 years. A review of the clinical problems and their management. Cystic Fibrosis-Current Topics. 1993; 1:217-50.
[9]
Cystic fibrosis. Eds. J. A. Dodge, D. J. Brock et al. Chichester: John Wiley and sons, 1993; Vol. 1. 338 p.
[10]
Kerem E, Corey M, Kerem BS, Rommens J, Markiewicz D, Levison H, Tsui LC, Durie P. The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508). N Engl J Med. 1990;323(22):1517-22.
[11]
Hamosh A, Cutting GR. Genotype/phenotype relationships in cystic fibrosis. Cystic Fibrosis-Current Topics. 1993; 1: 69-92.
[12]
Statement of the American Society of Human Genetics on cystic fibrosis carrier screening. Am J Hum Genet. 1992;51(6):1443-4.
[13]
Wilfond BS, Fost N. The cystic fibrosis gene: medical and social implications for heterozygote detection. JAMA. 1990 May 23-30;263(20):2777-83.
[14]
Tsui LCh, Markiewicz D, Zielenski J. et al. Mutation analysis in cystic fibrosis. Cystic Fibrosis-Current Topics. 1993; 1: 27-44.
[15]
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.
[16]
Gusak NM, Gorownko NG, Homenko NL, Buzhievskaya TI. A methodological approach allowing a faster and easier procedure for identification of ?F508 in CFTR gene. Biopolym Cell. 1994; 10(3-4):58-62.
[17]
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.
[18]
Vidaud M, Fanen P, Martin J, Ghanem N, Nicolas S, Goossens M. Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis. Hum Genet. 1990;85(4):446-9.
[19]
Abeliovich D, Lavon IP, Lerer I, Cohen T, Springer C, Avital A, Cutting GR. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet. 1992;51(5):951-6.
[21]
Super M. The gene defect in cystic fibrosis and clinical applications of the knowledge. J R Soc Med. 1992;85 Suppl 19:6-8.
[23]
Shoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, Rivlin Y, Tal A, Seret H, Yaar L, Kerem E, et al. Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am J Hum Genet. 1992;50(1):222-8.
[24]
Cheadle JP, Meredith AL, al-Jader LN. A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene. Hum Mol Genet. 1992;1(2):123-5.
[25]
Gasparini P, Borgo G, Mastella G, Bonizzato A, Dognini M, Pignatti PF. Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease. J Med Genet. 1992;29(8):558-62.
[26]
Chou JL, Rozmahel R, Tsui LC. Characterization of the promoter region of the cystic fibrosis transmembrane conductance regulator gene. J Biol Chem. 1991;266(36):24471-6.
[27]
Rich DP, Anderson MP, Gregory RJ, Cheng SH, Paul S, Jefferson DM, McCann JD, Klinger KW, Smith AE, Welsh MJ. Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells. Nature. 1990;347(6291):358-63.
