Analysis of 22 cystic fibrosis mutations in 62 patients from the flanders, Belgium, reveals a high prevalence of nordic mutation 394delTT

Human Mutation

Volumn 10, Issue 3, 1997, Pages 236-238

  Messiaen, Ludwine ^a   Van Loon, Conny ^b   Rossau, Rudi ^b   De Canck, Ilse ^b   De Baets, Frans ^a   Robbrecht, Eddy ^a   De Paepe, Anne ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b INNOGENETICS   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; OLIGONUCLEOTIDE;

ALLELE; ARTICLE; BELGIUM; COLORIMETRY; CONTROLLED STUDY; CYSTIC FIBROSIS; DNA PROBE; EXON; GENE; GENE MUTATION; HUMAN; INTRON; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; SWEAT TEST;

BELGIUM; CYSTIC FIBROSIS; DENMARK; DNA MUTATIONAL ANALYSIS; FINLAND; GENE FREQUENCY; HUMANS; MUTATION; NORWAY; SEQUENCE DELETION; SWEDEN;

EID: 0030759984     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:3<236::AID-HUMU10>3.0.CO;2-0     Document Type: Article

References (6)

1. Boat TF, Welsh MJ, Beaudet AL (1989) Cystic fibrosis. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease, 6th ed. New York: McGraw-Hill, pp 2649-2680.
2. Cheadle JR Goodchild MC, Meredith AL (1993) Direct sequencing of the complete CFTR gene: The molecular characterisation of 99,5% of CF chromosomes in Wales. Hum Mol Genet 2:1551-1556.
3. Chillon M, Casals T Giménez J, Ramos MD, Palacio A, Morral N, Estivill X, Nunes V (1994) Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. Hum Genet 93:447-451.
4. Cystic Fibrosis Genetic Analysis Consortium (1994) Population variation of common cystic fibrosis mutations. Hum Mutat 4:167-177.
5. Claustres M, Laussel M, Desgeorges M, Giansily M, Culard JF, Razakatsara G, Demaille J (1993) Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91,2% of the mutant alleles in Southern France. Hum Mol Genet 8:1209-1213.
6. Cuppens H, Marynen P, De Boeck C, Cassiman JJ (1993) Detection of 98,5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene. Genomics 18:693-697.