메뉴 건너뛰기




Volumn 5, Issue 1, 2006, Pages 3-8

Mutation analysis of CFTR gene in 70 Iranian cystic fibrosis patients

Author keywords

Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Iran; Mutations; Single stranded conformational polymorphism

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 33745900233     PISSN: 17351502     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (14)

References (35)
  • 1
    • 0024453308 scopus 로고
    • Identification of the cystic fibrosis gene: Chromosome walking and jumping
    • Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989; 245(4922):1059-65.
    • (1989) Science , vol.245 , Issue.4922 , pp. 1059-1065
    • Rommens, J.M.1    Iannuzzi, M.C.2    Kerem, B.3    Drumm, M.L.4    Melmer, G.5    Dean, M.6
  • 2
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
    • Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989; 245(4922):1066-73.
    • (1989) Science , vol.245 , Issue.4922 , pp. 1066-1073
    • Riordan, J.R.1    Rommens, J.M.2    Kerem, B.3    Alon, N.4    Rozmahel, R.5    Grzelczak, Z.6
  • 4
    • 0036086127 scopus 로고    scopus 로고
    • Molecular diagnosis of cystic fibrosis
    • Shrimpton AE. Molecular diagnosis of cystic fibrosis. Expert Rev Mol Diagn 2002; 2(3):240-56.
    • (2002) Expert Rev Mol Diagn , vol.2 , Issue.3 , pp. 240-256
    • Shrimpton, A.E.1
  • 5
    • 21444440910 scopus 로고    scopus 로고
    • The CFTR gene and regulation of its expression
    • McCarthy VA, Harris A. The CFTR gene and regulation of its expression. Pediatr Pulmonol 2005; 40(1):1-8.
    • (2005) Pediatr Pulmonol , vol.40 , Issue.1 , pp. 1-8
    • McCarthy, V.A.1    Harris, A.2
  • 6
    • 0025760318 scopus 로고
    • Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
    • Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, et al. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991; 10(1):214-24.
    • (1991) Genomics , vol.10 , Issue.1 , pp. 214-224
    • Zielenski, J.1    Rozmahel, R.2    Bozon, D.3    Kerem, B.4    Grzelczak, Z.5    Riordan, J.R.6
  • 7
    • 5644250620 scopus 로고    scopus 로고
    • CFTR mutations and polymorphisms in male infertility
    • Cuppens H, Cassiman JJ. CFTR mutations and polymorphisms in male infertility. Int J Androl. 2004; 27(5):251-6.
    • (2004) Int J Androl , vol.27 , Issue.5 , pp. 251-256
    • Cuppens, H.1    Cassiman, J.J.2
  • 8
    • 0037043650 scopus 로고    scopus 로고
    • What is cystic fibrosis?
    • Knowles MR, Durie PR. What is cystic fibrosis? N Engl J Med 2002; 347(6):439-42.
    • (2002) N Engl J Med , vol.347 , Issue.6 , pp. 439-442
    • Knowles, M.R.1    Durie, P.R.2
  • 10
    • 0027411743 scopus 로고    scopus 로고
    • Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistan family
    • Curtis A, Richardson RJ, Boohene J, Jackson A, Nelson R, Bhattacharya SS. Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistan family. J Med Genet 1997; 30(2):164-166.
    • (1997) J Med Genet , vol.30 , Issue.2 , pp. 164-166
    • Curtis, A.1    Richardson, R.J.2    Boohene, J.3    Jackson, A.4    Nelson, R.5    Bhattacharya, S.S.6
  • 12
    • 0030754623 scopus 로고    scopus 로고
    • Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations
    • The Biomed CF Mutation Analysis Consortium
    • 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.
    • (1997) Hum Mutat , vol.10 , Issue.2 , pp. 135-154
    • Estivill, X.1    Bancells, C.2    Ramos, C.3
  • 13
    • 0033945057 scopus 로고    scopus 로고
    • The geographic distribution of cystic fibrosis mutations gives clues about population origins
    • Dawson KP, Frossard PM. The geographic distribution of cystic fibrosis mutations gives clues about population origins. Eur J Pediatr 2000; 159(7):496-9.
    • (2000) Eur J Pediatr , vol.159 , Issue.7 , pp. 496-499
    • Dawson, K.P.1    Frossard, P.M.2
  • 14
    • 0036120193 scopus 로고    scopus 로고
    • The Cystic Fibrosis Transmembrane Conductance Regulator: An intriguing protein with pleiotropic functions
    • Vankeerberghen A, Cuppens H, Cassiman JJ. The Cystic Fibrosis Transmembrane Conductance Regulator: an intriguing protein with pleiotropic functions. J Cyst Fibros 2002; 1(1):13-29.
    • (2002) J Cyst Fibros , vol.1 , Issue.1 , pp. 13-29
    • Vankeerberghen, A.1    Cuppens, H.2    Cassiman, J.J.3
  • 16
    • 13644260469 scopus 로고    scopus 로고
    • Genotype-phenotype relationship for five CFTR mutations frequently identified in western France
    • Dugueperoux I, De Braekeleer M; The Participating Centres to the French National Cystic Fibrosis Registry. Genotype-phenotype relationship for five CFTR mutations frequently identified in western France. J Cyst Fibros 2004; 3(4):259-63.
    • (2004) J Cyst Fibros , vol.3 , Issue.4 , pp. 259-263
    • Dugueperoux, I.1    De Braekeleer, M.2
  • 17
    • 0038663174 scopus 로고    scopus 로고
    • Effect of genotype on phenotype and mortality in cystic fibrosis: A retrospective cohort study
    • Mckone EF, Emerson SS, Edwards KL, Aitken ML. Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. Lancet 2003; 361(9370):1671-6.
    • (2003) Lancet , vol.361 , Issue.9370 , pp. 1671-1676
    • Mckone, E.F.1    Emerson, S.S.2    Edwards, K.L.3    Aitken, M.L.4
  • 18
    • 0026764808 scopus 로고
    • Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene
    • Ferrie RM, Schwarz MJ, Robertson NH, Vaudin S, Super M, Malone G, et al. Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. Am J Hum Genet 1992; 51(2):251-62.
    • (1992) Am J Hum Genet , vol.51 , Issue.2 , pp. 251-262
    • Ferrie, R.M.1    Schwarz, M.J.2    Robertson, N.H.3    Vaudin, S.4    Super, M.5    Malone, G.6
  • 19
    • 0032772838 scopus 로고    scopus 로고
    • Two buffer PAGE system-based SSCP/HD analysis: A general protocole for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease
    • Liechti-Gallati S, Schneider V, Neeser D, Kraemer R. Two buffer PAGE system-based SSCP/HD analysis: a general protocole for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease. Eur J Hum Genet 1999; 7(5):590-8.
    • (1999) Eur J Hum Genet , vol.7 , Issue.5 , pp. 590-598
    • Liechti-Gallati, S.1    Schneider, V.2    Neeser, D.3    Kraemer, R.4
  • 20
    • 0036258208 scopus 로고    scopus 로고
    • Cystic fibrosis: A worldwide analysis of CFTR mutationscorrelation with incidence data and application to screening
    • Bobadilla JL, Macek M Jr, Fine JP, Farrell PM. Cystic fibrosis: a worldwide analysis of CFTR mutationscorrelation with incidence data and application to screening. Hum Mutat 2002; 19(6):506-75.
    • (2002) Hum Mutat , vol.19 , Issue.6 , pp. 506-575
    • Bobadilla, J.L.1    Macek Jr., M.2    Fine, J.P.3    Farrell, P.M.4
  • 21
    • 0034012303 scopus 로고    scopus 로고
    • Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations
    • Kambouris M, Banjar H, Moggari I, Nazer H, Al-Hamed M, Meyer BF. Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations. Eur J Pediatr 2000; 159(5):303-9.
    • (2000) Eur J Pediatr , vol.159 , Issue.5 , pp. 303-309
    • Kambouris, M.1    Banjar, H.2    Moggari, I.3    Nazer, H.4    Al-Hamed, M.5    Meyer, B.F.6
  • 22
    • 0036915022 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane regulator gene mutations in Bahrain
    • Eskandarani HA. Cystic fibrosis transmembrane regulator gene mutations in Bahrain. J Trop Pediatr 2002; 48(6):348-50.
    • (2002) J Trop Pediatr , vol.48 , Issue.6 , pp. 348-350
    • Eskandarani, H.A.1
  • 23
    • 18344406691 scopus 로고    scopus 로고
    • Highest heterogeneity for cystic fibrosis: 36 Mutations account for 75% of all CF chromosomes in Turkish patients
    • Kilinc MO, Ninis VN, Dagli E, Demirkol M, Ozkinay F, Arikan Z, et al. Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients. Am J Med Genet 2002; 113(3):250-7.
    • (2002) Am J Med Genet , vol.113 , Issue.3 , pp. 250-257
    • Kilinc, M.O.1    Ninis, V.N.2    Dagli, E.3    Demirkol, M.4    Ozkinay, F.5    Arikan, Z.6
  • 24
    • 0031949654 scopus 로고    scopus 로고
    • Analysis of the CFTR gene in Turkish cystic fibrosis patients: Identification of three novel mutations (3172delAC, P1013L and M1028I)
    • Onay T, Topaloglu O, Zielenski J, Gokgoz N, Kayserili H, Camcioglu Y, et al. Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I). Hum Genet 1998; 102(2):224-30.
    • (1998) Hum Genet , vol.102 , Issue.2 , pp. 224-230
    • Onay, T.1    Topaloglu, O.2    Zielenski, J.3    Gokgoz, N.4    Kayserili, H.5    Camcioglu, Y.6
  • 25
    • 10944240570 scopus 로고    scopus 로고
    • First study of CF mutations in the CFTR gene of Iranian patients: Detection of DeltaF508, G542X, W1282X, A120T, R117H, and R347H mutations
    • Jalalirad M, Houshmand M, Mirfakhraie R, Goharbari MH, Mirzajani F. First study of CF mutations in the CFTR gene of Iranian patients: detection of DeltaF508, G542X, W1282X, A120T, R117H, and R347H mutations. J Trop Pediatr 2004; 50(6):359-61.
    • (2004) J Trop Pediatr , vol.50 , Issue.6 , pp. 359-361
    • Jalalirad, M.1    Houshmand, M.2    Mirfakhraie, R.3    Goharbari, M.H.4    Mirzajani, F.5
  • 27
    • 0036765885 scopus 로고    scopus 로고
    • Spatial and temporal distribution of cystic fibrosis and its mutations in Brittany, France: A retrospective study from 1960
    • Scotet V, Gillet D, Dugueperoux I, Audrezet MP, Bellis G, Garnier B, et al. Spatial and temporal distribution of cystic fibrosis and its mutations in Brittany, France: a retrospective study from 1960. Hum Genet 2002; 111(3):247-54.
    • (2002) Hum Genet , vol.111 , Issue.3 , pp. 247-254
    • Scotet, V.1    Gillet, D.2    Dugueperoux, I.3    Audrezet, M.P.4    Bellis, G.5    Garnier, B.6
  • 28
    • 0033991018 scopus 로고    scopus 로고
    • Cystic fibrosis mutations: Report from the French Registry
    • The Clinical Centers of the CF
    • Guilloud-Bataille M, De Crozes D, Rault G, Degioanni A, Feingold J. Cystic fibrosis mutations: report from the French Registry. The Clinical Centers of the CF. Hum Hered 2000; 50(2):142-5.
    • (2000) Hum Hered , vol.50 , Issue.2 , pp. 142-145
    • Guilloud-Bataille, M.1    De Crozes, D.2    Rault, G.3    Degioanni, A.4    Feingold, J.5
  • 30
    • 0034242554 scopus 로고    scopus 로고
    • Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia
    • Teder M, KlaassenT, Oitmaa E, KaasikK, Metspalu A. Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia. J Med Genet 2000; 37(8): 1-4.
    • (2000) J Med Genet , vol.37 , Issue.8 , pp. 1-4
    • Teder, M.1    Klaassen, T.2    Oitmaa, E.3    Kaasik, K.4    Metspalu, A.5
  • 32
    • 13644259777 scopus 로고    scopus 로고
    • High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France
    • des Georges M, Guittard C, Altieri JP, Templin C, Sarles J, Sarda P, et al. High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France. J Cyst Fibros 2004; 3(4):265-72.
    • (2004) J Cyst Fibros , vol.3 , Issue.4 , pp. 265-272
    • Georges, M.1    Guittard, C.2    Altieri, J.P.3    Templin, C.4    Sarles, J.5    Sarda, P.6
  • 33
    • 0028229223 scopus 로고
    • The origin of the major cystic fibrosis mutation (delta F508) in European populations
    • Morral N, Bertranpetit J, Estivill X, Nunes V, Casals T, Gimenez J, et al. The origin of the major cystic fibrosis mutation (delta F508) in European populations. Nat Genet 1994; 7(2):169-75.
    • (1994) Nat Genet , vol.7 , Issue.2 , pp. 169-175
    • Morral, N.1    Bertranpetit, J.2    Estivill, X.3    Nunes, V.4    Casals, T.5    Gimenez, J.6
  • 34
    • 0034103637 scopus 로고    scopus 로고
    • A hypothesis regarding the origin and spread of the cystic fibrosis mutation deltaF508
    • Dawson KP, Frossard PM. A hypothesis regarding the origin and spread of the cystic fibrosis mutation deltaF508. QJM 2000; 93(5):313-5.
    • (2000) QJM , vol.93 , Issue.5 , pp. 313-315
    • Dawson, K.P.1    Frossard, P.M.2
  • 35
    • 0036138110 scopus 로고    scopus 로고
    • Can a place of origin of the main cystic fibrosis mutations be identified?
    • Mateu E, Calafell F, Ramos MD, Casals T, Bertranpetit J. Can a place of origin of the main cystic fibrosis mutations be identified? Am J Hum Genet 2002; 70(1):257-64.
    • (2002) Am J Hum Genet , vol.70 , Issue.1 , pp. 257-264
    • Mateu, E.1    Calafell, F.2    Ramos, M.D.3    Casals, T.4    Bertranpetit, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.