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  • 1
    Electronic Resource
    Electronic Resource
    Geographic distribution and origin of CFTR mutations in Germany (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 727-731 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromosomes from 22 European countries and overseas. The major mutation ΔF508 was identified on 71.5% of all CF chromosomes, followed by R553X (1.8%), N1303K (1.3%), G542X (1.1%), G551D (0.8%) and R347P (0.8%). According to the grandparents’ birthplace, 74% of CF chromosomes had their origin in Germany; the ΔF508 percentage was 77%, 75%, 70% and 62% in northern, southern, western and eastern Germany, respectively. Ten or more mutant alleles in the investigated CF gene pool originated from Austria, the Czech Republic, Poland, Russia, Turkey and the Ukraine. This widespread geographic origin of CFTR mutations in today’s Germany reflects the many demographic changes and migrations in Central Europe during the 20th century.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050128
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  • 2
    Electronic Resource
    Electronic Resource
    Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene (1992)
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 653-658 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The N1303K mutation was identified in the second nucleotide binding fold of the cystic fibrosis (CF) gene last year. We have gathered data from laboratories throughout Europe and the United States of America in order to estimate its frequency and to attempt to characterise the clinical manifestations of this mutation. N1303K, identified on 216 of nearly 15000 CF chromosomes tested, accounts for 1.5% of all CF chromosomes. The frequency of the N1303K allele varies significantly between countries and ethnic groups, being more common in Southern than in Northern Europe. This variation is independent of the AF508 allele. It was not found on UK Asian, American Black or Australian chromosomes. N1303K is associated with four different linked marker haplotypes for the polymorphic markers XV-2c, KM.19 and pMP6d-9. Ten patients are homozygous for this mutation, whereas 106 of the remainder carry one of 12 known CF mutations in the other CF allele. We classify N1303K as a “severe” mutation with respect to the pancreas, but can find no correlation between this mutation, in either the homozygous or heterozygous state, and the severity of lung disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00221957
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Geographic distribution and origin of CFTR mutations in Germany (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 727-731 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromosomes from 22 European countries and overseas. The major mutation ΔF508 was identified on 71.5% of all CF chromosomes, followed by R553X (1.8%), N1303K (1.3%), G542X (1.1%), G551D (0.8%) and R347P (0.8%). According to the grandparents' birthplace, 74% of CF chromosomes had their origin in Germany; the ΔF508 percentage was 77%, 75%, 70% and 62% in northern, southern, western and eastern Germany, respectively. Ten or more mutant alleles in the investigated CF gene pool originated from Austria, the Czech Republic, Poland, Russia, Turkey and the Ukraine. This widespread geographic origin of CFTR mutations in today's Germany reflects the many demographic changes and migrations in Central Europe during the 20th century.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02346181
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Narrow-band BoxCARS applied to CO2 laser discharges (1992)
    Springer
    Il nuovo cimento della Società Italiana di Fisica 14 (1992), S. 1051-1063 
    Details
    ISSN: 0392-6737
    Keywords: Stimulated Raman scattering and spectra ; CARS ; Lasing processes ; Optical (ultraviolet, visible, infrared) measurements
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Summary CARS (Coherent Anti-Stokes Raman Scattering) has developed into a powerful tool for studying molecular systems. One of its possibilities is to derive vibrational and rotational temperatures as well as concentrations of molecules from measurements of the energy level population differences. A very good spatial resolution of CARS technique is one of its important advantages. This feature has been utilized for making spatially resolved measurements of the vibrational and rotational temperatures of N2 in a d.c.-excited transverse-flow CO2 laser discharge. Apart from that also spectra of CO2, CO and O2 in the discharge have been taken, which allowed us to evaluate the spatial distributions of those components in the discharge. Additionally first investigations of a microwave-excited CO2 laser module have been performed for comparison.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02455367
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  • 5
    Electronic Resource
    Electronic Resource
    Temperature and concentration profiles in a low pressure methane process plasma (1995)
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 78 (1995), S. 1297-1302 
    Details
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: Coherent anti-Stokes Raman scattering (CARS) is applied to a microwave (2.45 GHz) excited plasma used for plasma enhanced chemical vapor deposition. The applicability of CARS to low pressure (2 Pa) plasmas is verified, and the absence of saturation is carefully checked. Ground state concentration profiles as well as rotational temperatures of CH4 are presented with high spatial and temporal resolution. The measurements show a decrease of the CH4 ground state density under the influence of the plasma down to ≈25% (nCH4=1.0×1020 m−3) of its initial value. The rotational temperature is nearby room temperature across the total discharge volume. A straightforward modeling of the plasma explains the decrease of CH4 ground state densities as an effect of electron collisions and delivers an approximate value of the electron temperature of about 3 eV. © 1995 American Institute of Physics.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1063/1.360371
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  • 6
    Electronic Resource
    Electronic Resource
    Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria (2000)
    Springer
    Pediatric nephrology 14 (2000), S. 376-384 
    Details
    ISSN: 1432-198X
    Keywords: Key words Tubular amino acid reabsorption ; Renal polyamine excretion ; SLC3A1 mutation analysis ; Genetic localization of non-type I cystinuria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Cystinuria is an autosomal recessive disorder of the tubular and intestinal resorption of cystine, ornithine, lysine and arginine leading to nephrolithiasis. Three cystinuria types can be distinguished by the mode of inheritance (true recessive or intermediate) and by the pattern of the intestinal amino acid transport. In the present study phenotypes were assessed by the urinary excretion of amino acids related to creatinine, the percentage tubular amino acid reabsorption and the urinary excretion of polyamines as a possible indicator of the intestinal transport defect. However, our thorough phenotyping did not reveal more than two cystinuria types. Genotypes were examined in linkage analyses and single-strand conformation polymorphism-based mutation identification. The SLC3A1 mutations M467T and T216M were disease causing in our homozygous patients of type I cystinuria. We can show the association of type I cystinuria with SLC3A1 and of non-type I cystinuria with a yet unidentified gene on chromosome 19q13.1. Our phenotype and genotype analyses provide evidence for only two types of cystinuria in the investigated patient cohort.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004670050778
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  • 7
    Electronic Resource
    Electronic Resource
    Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens (1997)
    Springer
    Human genetics 〈Berlin〉 100 (1997), S. 365-377 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Congenital absence of the vas deferens (CAVD) is a frequent cause for obstructive azoospermia and accounts for 1%–2% of male infertility. A high incidence of mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has recently been reported in males with CAVD. We have investigated a cohort of 106 German patients with congenital bilateral or unilateral absence of the vas deferens for mutations in the coding region, flanking intron regions and promotor sequences of the CFTR gene. Of the CAVD patients, 75% carried CFTR mutations or disease-associated CFTR variants, such as the “5T” allele, on both chromosomes. The distribution of mutation genotypes clearly differed from that observed in cystic fibrosis. None of the CAVD patients was homozygous for ΔF508 and none was compound heterozygous for ΔF508 and a nonsense or frameshift mutation. Instead, homozygosity was found for a few mild missense or splicing mutations, and the majority of CAVD mutations were missense substitutions. Twenty-one German CAVD patients were compound heterozygous for ΔF508 and R117H, which was the most frequent CAVD genotype in our study group. Haplotype analysis indicated a common origin for R117H in our population, whereas another frequent CAVD mutation, viz. the “5T allele” was a recurrent mutation on different intragenic haplotypes and multiple ethnic backgrounds. We identified a total of 46 different mutations and variants, of which 15 mutations have not previously been reported. Thirteen novel missense mutations and one unique amino-acid insertion may be confined to the CAVD phenotype. A few splice or missense variants, such as F508C or 1716 G→A, are proposed here as possible candidate CAVD mutations with an apparently reduced penetrance. Clinical examination of patients with CFTR mutations on both chromosomes revealed elevated sweat chloride concentrations and discrete symptoms of respiratory disease in a subset of patients. Thus, our collaborative study shows that CAVD without renal malformation is a primary genital form of cystic fibrosis in the vast majority of German patients and links the particular expression of clinical symptoms in CAVD with a distinct subset of CFTR mutation genotypes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050518
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    Paper (German National Licenses)
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  • 8
    Electronic Resource
    Electronic Resource
    Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe (2000)
    Springer
    Human genetics 〈Berlin〉 106 (2000), S. 259-268 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2,3(21 kb), deletes 21,080 bp spanning introns 1–3 of the CFTR gene. Transcript analyses have revealed that this deletion results in the loss of exons 2 and 3 in epithelial CFTR mRNA, thereby producing a premature termination signal within exon 4. In order to develop a simple polymerase chain reaction assay for this allele, we defined the end-points of the deletion at the DNA sequence level. We next screened for this mutation in a representative set of European and European-derived populations. Some 197 CF patients, including seven homozygotes, bearing this mutation have been identified during the course of our study. Clinical evaluation of CFTRdele2,3(21 kb) homozygotes and a comparison of compound heterozygotes for ΔF508/CFTRdele2,3(21 kb) with pairwise-matched ΔF508 homozygotes indicate that this deletion represents a severe mutation associated with pancreatic insufficiency and early age at diagnosis. Current data show that the mutation is particularly common in Czech (6.4% of all CF chromosomes), Russian (5.2%), Belorussian (3.3%), Austrian (2.6%), German (1.5%), Polish (1.5%), Slovenian (1.5%), Ukrainian (1.2%), and Slovak patients (1.1%). It has also been found in Lithuania, Latvia, Macedonia and Greece and has sporadically been observed in Canada, USA, France, Spain, Turkey, and UK, but not in CF patients from Bulgaria, Croatia, Romania or Serbia. Haplotype analysis has identified the same extragenic CF-haplotype XV-2c/KM.19 "A" and the same infrequent intragenic microsatellite haplotype 16–33–13 (IVS8CA-IVS17bTA-IVS17bCA) in all examined CFTRdele2,3(21 kb) chromosomes, suggesting a common origin for this deletion. We conclude that the 21-kb deletion is a frequent and severe CF mutation in populations of Eastern- and Western-Slavic descent.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390000246
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  • 9
    Electronic Resource
    Electronic Resource
    Resonance enhanced coherent anti-stokes raman scattering and laser induced fluorescence applied to CH radicals: a comparative study (1996)
    Springer
    Applied physics 64 (1996), S. 111-118 
    Details
    ISSN: 1432-0649
    Keywords: PACS:33.50D; 42.65C; 81.15H
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract. Resonance enhanced CARS and LIF have been applied to the CH radicals in a microwave excited Ar/H $_2$ /CH $_4$ plasma ( $p = 21$ Pa, $P_{\rm Mikro} = 2.7$ kW). Both techniques yield similar nonthermal rotational population distributions of CH(X $^2\Pi_r$ ) in its vibrational ground state ( $v=0$ ), which can be described by two rotational temperatures, $T_{\rm rot,1} \approx 600$ K being in the order of the gas temperature for rotational states with $N \le 7$ , and a considerably higher $T_{\rm rot,2}$ for the higher rotational states. This result is in good agreement with previous resonance CARS and LIF measurements in similar plasmas. With resonance CARS additional measurements on CH in the $v=1$ state could be performed yielding a vibrational temperature of 2440 K, the total CH density was about $1.6 \times 10^{18}$ m $^{-3}$ . The detection limits of both techniques are determined, in our case about $2 \times 10^8$ CH radicals per quantum state in the detection volume, and their advantages and disadvantages are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003400050153
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