Access the full text.
Sign up today, get DeepDyve free for 14 days.
H. Shwachman, L. Kulczycki (1958)
Long-term study of one hundred five patients with cystic fibrosis; studies made over a five- to fourteen-year period.A.M.A. journal of diseases of children, 96 1
Rommens (1990)
Rapid nonradioactive detection of the major CF mutationAm J Hum Genet, 46
Kerem (1995)
Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish groups in IsraelHum Genet, 96
K. Gan, H. Veeze, A. Ouweland, D. Halley, H. Scheffer, A. Hout, S. Overbeek, J. Jongste, W. Bakker, H. Heijerman (1995)
A cystic fibrosis mutation associated with mild lung disease.The New England journal of medicine, 333 2
D. Bozon, J. Zieleński, F. Rininsland, L. Tsui (1994)
Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA→GHuman Mutation, 3
Larsen (1992)
Frequency of ΔF508 mutation and haplotype analysis in Austrian cystic fibrosis familiesHum Genet, 89
J. Rommens, B. Kerem, W. Greer, P. Chang, L. Tsui, P. Ray (1990)
Rapid nonradioactive detection of the major cystic fibrosis mutation.American journal of human genetics, 46 2
G. Cutting, S. Curristin, E. Nash, B. Rosenstein, I. Lerer, D. Abeliovich, A. Hill, Colin Grahamil (1992)
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.American journal of human genetics, 50 6
Highsmith (1990)
Identification of a splicing error of exon 14b giving rise to a frameshift mutation in a consanguineous family with mild cystic fibrosisPediatr Pulmonol
J. Rommens, M. Drumm, G. Melmer, M. Dean, R. Rozmahel, J. Cole, D. Kennedy, N. Hidaka, M. Zsiga, M. Buchwald, J. Riordan, Lap-Chee Tsui (2008)
Identification of the Cystic Fibrosis Gene : Chromosome Walking and Jumping Author ( s ) :
K. Will, T. Dörk, M. Stuhrmann, H. Hardt, H. Ellemunter, B. Tümmler, J. Schmidtke (1995)
Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patientsHuman Mutation, 5
J. Cheadle (1994)
Population variation of common cystic fibrosis mutationsHuman Mutation, 4
J. Zieleński, R. Rozmahel, D. Bozon, B. Kerem, Z. Grzelczak, J. Riordan, J. Rommens, Lap-Chee Tsui (1991)
Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Genomics, 10 1
P. Gasparini, G. Borgo, G. Mastella, A. Bonizzato, M. Dognini, P. Pignatti (1992)
Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.Journal of Medical Genetics, 29
J. Van, DE Kamer, H. Bokkel, Huinink, H. Weyers (1949)
Rapid method for the determination of fat in feces.The Journal of biological chemistry, 177 1
F. Fowweather, W. Anderson (1946)
A method for the determination of fat in faeces.The Biochemical journal, 40 3
John McArdle1, Laurie Whittaker2 (2009)
Cystic FibrosisSemin Respir Crit Care Med, 30
K. Klinger, G. Horn, P. Stanislovitis, R. Schwartz, T. Fujiwara, K. Morgan (1990)
Cystic fibrosis mutations in the Hutterite Brethren.American journal of human genetics, 46 5
Wagner (1992)
Frequency of ΔF508 and haplotype association in Austrian cystic fibrosis familiesHum Genet, 89
Masato Orita, Youichi Suzuki, T. Sekiya, K. Hayashi (1989)
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.Genomics, 5 4
J. Riordan (1989)
Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNATrends in Genetics, 5
Dörk (1992)
Intra-and extragenic marker haplotypes of CFTR mutations in cystic fibrosis familiesHum Genet, 88
John Hostetler, John Opitz, J. Reynolds (1985)
History and relevance of the Hutterite population for genetic studies.American journal of medical genetics, 22 3
H. Cuppens, P. Marynen, C. Boeck, J. Cassiman (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 3
Riordan (1989)
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNAScience, 245
I. Lavon, I. Lerer, T. Cohen, A. Avital (1992)
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.American journal of human genetics, 51 5
(1991)
Genotype/phenotype correlation in German and Austrian CF patients
I. Greil, K. Wagner, W. Rosenkranz (1994)
A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Human heredity, 44 4
B. Wilcken (1995)
Reviews and Notes: Genetics: The Metabolic and Molecular Bases of Inherited Disease
J. Cheadle, M. Goodchild, A. Meredith (1993)
Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales.Human molecular genetics, 2 10
J. Zieleński, T. Fujiwara, D. Markiewicz, A. Paradis, A. Anacleto, B. Richards, R. Schwartz, K. Klinger, L. Tsui, K. Morgan (1993)
Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.American journal of human genetics, 52 3
B. Kerem (1989)
Identification of the cystic fibrosis gene: genetic analysisTrends in Genetics, 5
Dörk (1994)
Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patientsHum Genet, 94
I. Greil, K. Wagner, W. Rosenkranz (1993)
Identification of a new splice site mutation (3849 + 1G-->A) in the intron 19 of the CFTR gene.Human molecular genetics, 2 12
C. Férec, M. Audrézet, B. Mercier, H. Guillermit, P. Moullier, I. Quéré, C. Verlingue (1992)
Detection of over 98% cystic fibrosis mutations in a Celtic populationNature Genetics, 1
(1974)
The systematic evaluation of the chest radiograph in CF
Schwartz (1995)
High incidence of cystic fibrosis on The Faroe Islands: a molecular and genealogical studyHum Genet, 95
T. Fujiwara, Kenneth Morgan, Robert Schwartz, A. Richard, Doherty, Shelley Miller, Katherine Klinger, P. Stanislovitis, Nancy, Stuart, Paul Watkinsll (1989)
Genealogical analysis of cystic fibrosis families and chromosome 7q RFLP haplotypes in the Hutterite Brethren.American journal of human genetics, 44 3
Kerem (1989)
Identification of the cystic fibrosis gene: genetic analysisScience, 245
M. Claustres, M. Laussel, M. Desgeorges, M. Giansily, Jean-Françols Culard, Gaby Razakatsara, J. Demaille (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.Human molecular genetics, 2 8
K. Wagner, I. Greil, P. Schneditz, W. Rosenkranz (1994)
A new missense mutation G126D in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Human heredity, 44 1
We identified 100% of the CFTR gene mutations, including three novel mutations, in 126 unrelated cystic fibrosis chromosomes from Tyrol, Austria. The frequency of the major mutation ΔF508 (74.6%) was not significantly different in Tyrolian CF-patients than in patients from Bavaria (71.0%) and Middle-and Northern Germany (71.9%), but was significantly higher than in patients from Styria (58.1%) or Northern Italy (47.6%). Interestingly, the distribution of the next most frequent mutations, R1162X (8.7%) 2183AA→G, 2789 +5G→A and G542X (2.4% each), was more similar to the distribution of these mutations among CF-patients from Northern Italy than to those from Styria, Bavaria or Middle-and Northern Germany. Nine further mutations occurred once or twice. One of these, the missense mutation M1101K, is rare worldwide but very frequent in the Hutterite brethren, a small founder population which came from Southern Austria to Northern America. Three other different mutations (ΔL453, 1874insT and 4108delT) were present in single Tyrolian families and have not been described before. The identification of 100% of CFTR gene mutations in a particular CF population demonstrates the power of genetic analysis for the diagnosis and counselling of CF families in this restricted geographical area of Austria. Our study provides evidence for a closer genetic relation between CF patients from Tyrol and those from Bavaria or Middle-and Northern Germany as well as Northern Italy, than between CF patients from the two Austrian states Tyrol and Styria.
Clinical Genetics – Wiley
Published: Oct 1, 1997
Keywords: Austria; CFTR; cystic fibrosis; Hutterite; Tyrol
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.