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  • 1990-1994  (4)
  • 1
    Electronic Resource
    Electronic Resource
    The spectrum of CFTR mutations in south-west German cystic fibrosis patients (1992)
    Springer
    Human genetics 〈Berlin〉 90 (1992), S. 267-269 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The cystic fibrosis transmembrane conductance regulator (CFTR) gene of 110 cystic fibrosis (CF) patients from the south-west of Germany was screened for 12 different mutations. This analysis resulted in an identification of 79% of all CF mutations and a complete genotype in 66% of the families. The most common mutation found was ΔF508 (67%). Another 5 mutations accounted for a further 12.5% (4% G542X; 3% R553X; 3% N1303K; 2% 1717-1 G→A; 0.5% G551D) whereas 6 mutations (R117H, A455E, ΔI507, S549I, S549N, and R1162X) were not found. Fifty-four (49%) patients were AF508 homozygotes and 18 (16.5%) were compound heterozygotes for ΔF508 and one of the rarer mutations. These frequencies differ slightly from those found in the north of Germany and considerably from those reported from the south of Europe, which seems to be consistent with a north to south decline of the relative abundance of ΔF508. Two patients, age 6 and 25 years, were compound heterozygotes for G542X and N1303K. The clinical features of the 6 year old were characterised by severe gastrointestinal and as yet only mild pulmonary complications whereas the 25 year old manifested severe pulmonary and gastrointestinal symptoms indicating that the N1303K mutation of the C-terminal CFTR nucleotide binding fold significantly impairs protein function in both the pancreas and the lungs.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00220076
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Buchbesprechung (1990)
    Springer
    Journal of molecular medicine 68 (1990), S. 289-289 
    Details
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02116060
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Book reviews (1990)
    Springer
    Annals of hematology 61 (1990), S. 2-2 
    Details
    ISSN: 1432-0584
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01739425
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Thalassemia intermedia: compound heterozygous β∘/β+-thalassemia and co-inherited heterozygous α+-thalassemia (1993)
    Springer
    Annals of hematology 66 (1993), S. 51-54 
    Details
    ISSN: 1432-0584
    Keywords: β-Thalassemia ; α-Thalassemia ; Thalassemia intermedia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The relative excess of α- over β-globin chains in the erythroid precursors is the chief pathophysiological factor of homozygous β-thalassemia. The clinical picture is usually characterized by a transfusion-dependent dyserythropoietic anemia (thalassemia major). However, some patients present with moderate anemia that does not require regular blood transfusions (thalassemia intermedia). The molecular heterogeneity of β-thalassemia mutations and changes of α- and γ-globin gene expression play an important role in modifying the clinical phenotype. We report here on a female Greek patient with homozygous β-thalassemia but normal growth and development, excellent exercise tolerance, and no need of blood transfusions. She is thus mildly affected clinically, although there is marked pallor, jaundice, and hepatosplenomegaly. These signs correspond to her marked hypochromic, microcytic anemia with erythroid hyperplasia of the bone marrow. β-Globin genotyping shows her to be compound heterozygous for the codon 39 C → T β∘-nonsense mutation and for the T → C β+-mutation at position 6 of the splice consensus at the exon 1/intron 1 junction (CD39 C → T/IVS 1–6 T → C). α-Globin gene mapping demonstrates the presence of a 3.7-kb α+-thalassemia deletion on one allele (−α3.7/αα). Taken together, this study identifies a complex interaction of genetic factors that do not significantly alter the clinical phenotype when present alone but ameliorate the course of homozygous β-thalassemia when inherited in combination.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01737689
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    Paper (German National Licenses)
    Fulltext
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