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  • 1
    Electronic Resource
    Electronic Resource
    Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 441-446 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Three mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene were discovered in a pancreas-insufficient patient with cystic fibrosis (CF) who displayed an uncommon combination of almost normal chloride concentration in sweat tests and typical symptoms of gastrointestinal and pulmonary disease. The R553Q mutation was found on the maternal ΔF508-CFTR gene. Codon 553 is located within a consensus motif of the ATP-binding cassette transport proteins at a less conserved position. Other members of this protein superfamily contain a glutamine instead of arginine at the homologous position, suggesting a modulating rather than disease-causing role of the R553Q mutation in CFTR. The amplification refractory mutation system did not detect the R553Q mutation in a further 65 normal, 113 ΔF508, and 91 non-ΔF508 CF chromosomes. The index case carried the R553X nonsense mutation on the paternal chromosome. The R553X mutation was present on a further 9 out of 86 German nonΔF508 CF chromosomes linked with the XV2c-KM19Mp6d9-J44-GATT haplotypes 2-2-2-1-1 and 1-1-2-1-2. The location of R553X on separate haplotypes including both alleles of the intragenic GATT repeat suggests an ancient and/or multiple origins of the R553X mutations. The association of the genotype of the CFTR mutation and the clinical phenotype was assessed for the patients carrying the related genotypes ΔF508/ΔF508 (n = 80), ΔF508/R553X (n = 9) and ΔF508-R553Q/R553X (n = 1). In compound heterozygotes, the median chloride concentration in pilocarpine iontophoresis sweat tests was significantly lower than in the ΔF508 homozygotes (P 〈 0.01). The patient groups were significantly different with respect to the distributions of the centiles for height (P 〈 0.001) and weight (P 〈 0.01) as the most sensitive predictors of the course and prognosis in CF. Growth retardation was more pronounced in the compound heterozygotes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00197165
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  • 2
    Electronic Resource
    Electronic Resource
    Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 67-73 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The alternatively spliced exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene codes for the initial part of the amino-terminal nucleotide-binding fold of CFTR. A unique feature of the acceptor splice site preceding this exon is a variable length polymorphism within the polypyrimidine tract influencing the extent of exon 9 skipping in CFTR mRNA. We investigated this repeat for its relationship to CFTR mutations and intragenic markers on 200 chromosomes from German patients with cystic fibrosis (CF). Four frequent length variations were strongly associated with the four predominant haplotypes previously defined by intragenic marker dimorphisms. One of these alleles displayed absolute linkage disequilibrium to the major CF mutation ΔF508. Other frequent CFTR mutations were linked to one particular splice site haplotype indicating that differential exon 9 skipping contributes little to the clinical heterogeneity among CF patients with an identical mutation. We also identified a novel missense mutation (V456F) and a novel nonsense mutation (Q414X) within the coding region of exon 9. The missense mutation V456F adjacent to Walker motif A was present in a pancreas-sufficient CF patient. In contrast, the pancreas-insufficient Q414X/ΔF508 compound heterozygote suffered from a severe form of the disease, indicating that alternative splicing of exon 9 does not overcome the deleterious effect of a stop codon within this exon.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00218916
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  • 3
    Electronic Resource
    Electronic Resource
    Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 533-542 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have conducted a comprehensive study of the molecular basis of cystic fibrosis (CF) in 350 German CF patients. A screening approach based on single-strand conformation analysis and direct sequencing of genomic polymerase chain reaction products has allowed us to detect the molecular defects on 95.4% of the CF chromosomes within the coding region and splice sites of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The spectrum of sequence changes comprises 54 different mutations, including 17 missense mutations, 14 nonsense mutations, 11 frameshift mutations, 10 splice site variants and two amino acid deletions. Eleven of these mutations have not previously been described. Our results reflect the marked mutational heterogeneity of CF in a large sample of patients from a non-isolated population.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00211022
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  • 4
    Electronic Resource
    Electronic Resource
    Distribution patterns of the ΔF508 mutation in the CFTR gene on CF-linked marker haplotypes in the German population (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 421-422 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have measured the frequency of the ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its association with cystic fibrosis (CF)-linked marker haplotypes in the German population. Based on the analysis of 400 CF chromosomes, the frequency of the ΔF508 mutation is estimated to be 77.3%, the vast majority being associated with marker haplotype KM19-XV2c 2 1. Our data further suggest the presence of another frequent CF mutation associated with this marker haplotype.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02428292
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  • 5
    Electronic Resource
    Electronic Resource
    Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families (1992)
    Springer
    Human genetics 〈Berlin〉 88 (1992), S. 417-425 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In order to facilitate the screening for the less common mutations in the cystic fibrosis (CF) gene viz., the CF transmembrane conductance regulator gene (CFTR), marker haplotypes were determined for German nonCF (N) and CF chromosomes by polymerase chain reaction analysis of four polymorphisms upstream of the CF gene (XV-2c, KM.19, MP6-D9, J44) and six intragenic polymorphisms (GATT, TUB9, M470V, T854T, TUB18, TUB20) that span the CFTR gene from exon 6 through exon 21. Novel informative sequence variants of CFTR were detected in front of exons 10 (1525-61 A or G), 19 (3601-65 C or A), and 21 (4006-200 A or G). The CF locus exhibits strong long-range marker-marker linkage disequilibrium with breakpoints of recombination between XV-2c and KM.19, and between exons 10 and 19 of CFTR. Marker alleles of GATT-TUB9 and TUB18-TUB20 were found to be in absolute linkage disequilibrium. Four major haplotypes encompass more than 90% of German N and CF chromosomes. Fifteen CFTR mutations detected on 421 out of 500 CF chromosomes were each identified on one of these four predominant 7-marker haplotypes. Whereas all analysed ΔF508 chromosomes carried the same KM.19-D9-J44-GATT-TUB9-M470V-T854T haplotype, another frequent mutation in Germany, R553X, was identified on two different major haplotypes. Hence, a priori haplotyping cannot exclude a particular CF mutation, but in combination with population genetic data, enables mutations to be ranked by decreasing probability.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00215676
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  • 6
    Electronic Resource
    Electronic Resource
    A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients (1992)
    Springer
    Human genetics 〈Berlin〉 90 (1992), S. 279-284 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract German patients with cystic fibrosis (CF) were screened for molecular lesions in exon 13 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by single strand conformation polymorphism (SSCP) and chemical cleavage of mismatch analyses. Direct sequencing of four samples that displayed the same SSCP pattern and that were susceptible to cleavage of heteroduplexes by osmium tetroxide revealed, in all cases, a deletion of a single T residue at nucleotide position 2143 within codon 671 of the CFTR gene. As a result, leucine codon 671 is changed into a termination codon. In total, the 2143delT mutation was confirmed in 6 out of 271 German non-ΔF508 CF chromosomes by artificial restriction fragment length polymorphism analysis, indicating that this frameshift mutation accounts for about 2% of German non-Δ508 mutations. The 6 pancreas insufficient patients who are compound heterozygous for 2143-delT suffer from the typical features of pulmonary and gastrointestinal CF disease. The 2143delT mutation completes the panel of the more frequent CFTR mutations that reside on the “ΔF508 haplotype” and that contribute to its overpresentation among German non-ΔF508 alleles that are associated with severe forms of disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00220079
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  • 7
    Electronic Resource
    Electronic Resource
    A new type of mutation causes a splicing defect in ATM (2002)
    [s.l.] : Nature Publishing Group
    Nature genetics 30 (2002), S. 426-429 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Disease-causing splicing mutations described in the literature primarily produce changes in splice sites and, to a lesser extent, variations in exon-regulatory sequences such as the enhancer elements. The gene ATM is mutated in individuals with ataxia-telangiectasia; we have indentified the ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng858
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  • 8
    Electronic Resource
    Electronic Resource
    Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator (1998)
    Springer
    Human genetics 〈Berlin〉 102 (1998), S. 582-586 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Cystic fibrosis (CF) is considered to be a monogenic disease caused by molecular lesions within the cystic fibrosis transmembrane conductance regulator (CFTR) gene and is diagnosed by elevated sweat electrolytes. We have investigated the clinical manifestations of cystic fibrosis, CFTR genetics and electrophysiology in a sibpair in which the brother is being treated as having CF, whereas his sister is asymptomatic. The diagnosis of CF in the index patient is based on highly elevated sweat electrolytes in the presence of CF-related pulmonary symptoms. The investigation of chloride conductance in respiratory and intestinal tissue by nasal potential difference and intestinal current measurements, respectively, provides no evidence for CFTR dysfunction in the siblings who share the same CFTR alleles. No molecular lesion has been identified in the CFTR gene of the brother. Findings in the investigated sibpair point to the existence of a CF-like disease with a positive sweat test without CFTR being affected. Other factors influencing sodium or chloride transport are likely to be the cause of the symptoms in the patient described.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050744
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  • 9
    Electronic Resource
    Electronic Resource
    Analysis of microsatellites by direct blotting electrophoresis and chemiluminescence detection (1995)
    Weinheim : Wiley-Blackwell
    Electrophoresis 16 (1995), S. 1886-1888 
    Details
    ISSN: 0173-0835
    Keywords: Direct blotting electrophoresis ; Microsatellite analysis ; Chemiluminescent detection ; Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: We describe a fast and reliable method for the nonradioactive analysis of microsatellites. For three dinucleotide repeats within the cystic fibrosis transmebrane conductance regulator (CFTR) gene, the separation of polymerase chain reaction (PCR) products generated with biotinylated primers on a direct blotting electrophoresis system and subsequent chemiluminescence detection is shown. In direct blotting electrophoresis, the separation of DNA fragments depended linearly on size. The reproducible resolution allowed reliable assignment of allele lengths to a given signal. The nonradioactive detection protocol was advantageous compared to radioactive methods: samples could be analyzed within one day due to the fast signal development by 3-(4-meth-oxyspiro{1,2-dioxetane-3,2′-(5′-chloro)tricyclo[3.3.1.1.3,7]decan}-4-yl)phenylphosphate disodium salt (CSPD). Variation of exposure times enabled differentiation between major bands and byproducts of comparable intensity that are due to the slippage of the Taq polymerase during PCR amplification.
    Additional Material: 3 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/elps.11501601309
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  • 10
    Electronic Resource
    Electronic Resource
    Molekularbiologie der MukoviszidoseHerrn Professor Dr. Jörg Schmidtke zum 50. Geburtstag. (1996)
    Weinheim : Wiley-Blackwell
    Biologie in unserer Zeit 26 (1996), S. 282-291 
    Details
    ISSN: 0045-205X
    Keywords: Life and Medical Sciences
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Mukoviszidose ist eine angeborene Funktionsstörung der exokrinen Körperdrüsen. Sie kommt bei etwa 1 : 2500 Lebendgeborenen in der weißen Bevölkerung Europas und Nordamerikas vor und gehört damit zu den häufigsten lebensbedrohlichen Erbkrankheiten des Menschen. Dennoch sind vollständige Beschreibungen des Krankheitsbildes erst seit etwas mehr als fünfzig Jahren bekannt. Die bei den meisten Mukoviszidosekranken auftretenden fibrotischen Veränderungen (Fibrose - Vermehrung des Bindegewebes) der Bauchspeicheldrüse haben zu der Bezeichnung cystic fibrosis of the pancreas geführt, so daß auch der Name zystische Fibrose (cystic fibrosis, CI) heute synonym gebräuchlich ist. Wir wollen im folgenden in kurzer Form auf die Symptome und Ursachen der Erkrankung eingehen. Eine ausführlichere Darstellung der Mukoviszidose und ihrer molekularbiologischen Grundlagen mit zahlreichen Literaturhinweisen ist kürzlich aktualisiert und erweitert worden [21].
    Additional Material: 8 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/biuz.19960260504
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