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  • 1995-1999  (4)
Document type
Publisher
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Year
  • 1
    Electronic Resource
    Electronic Resource
    High incidence of cystic fibrosis on The Faroe Islands: a molecular and genealogical study (1995)
    Springer
    Human genetics 〈Berlin〉 95 (1995), S. 703-706 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have studied the genetics of cystic fibrosis (CF) in The Faroe Islands. Based on the number of affected children born during the period 1954–1993, the incidence of CF at birth is 1∶1775, which is more than twice the incidence in the rest of Denmark. We have tested all known CF patients and/or their parents for the presence of ΔF508 and found it to be the only CF mutation in this population. Based on testing 881 unrelated control individuals, the carrier frequency was estimated to be 1∶24, giving a calculated incidence of 1∶2300. Genealogical studies enabled us to trace several of the families over seven generations. Haplotype investigations within the families suggest that ΔF508 was introduced by two founders, probably from the Celtic population in Brittany, Ireland, Wales or the North West of Scotland.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00209491
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Mutations in the gene encoding 21-hydroxylase detected by solid-phase minisequencing (1996)
    Springer
    Human genetics 〈Berlin〉 99 (1996), S. 98-102 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have developed an assay based on solid-phase minisequencing to screen for the following seven point mutations in the gene CYP21 encoding 21-hydroxylase: Pro30Leu, I2-splice, Ile172Asn, Cluster-E6, Val281Leu, Gln318Stop, and Arg356Trp. 5′-Biotinylated PCR products of CYP21 are bound to streptavidin-coated microtiter wells, where the minisequencing reaction takes place after denaturation of DNA. Depending on the sequence investigated, one specific 3H-labelled deoxyribonucleotide is incorporated to extend a detection primer. By using an appropriate set of detection primers, it is possible to screen the gene for several mutations within the same PCR amplificate. This fast and reliable method very clearly distinguishes between DNA from homozygous mutant, heterozygous, and normal individuals and is well suited for routine diagnosis of patients with 21-hydroxylase deficiency and for carrier detection.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050319
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Deletion of a Gly-Pro-Pro repeat in the proα2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 287-290 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have investigated one member of a family with dominant osteogenesis imperfecta type IV through three generations. In protein-chemical studies of cultured fibroblasts derived from the proband, collagen I was overmodified, with normal processing of procollagen 1, normal thermal stability, and a cyanogen bromide peptide map that suggested a C-terminal location of the structural abnormality in the collagen triple helix. Sequencing of the gene encoding the α2(I) chain of collagen I (COL1A2) indicated a nine base-pair deletion of nucleotides 3418–3426. When a polymerase chain reaction product containing the nucleotides in question was electrophoresed in a 12% polyacrylamide gel, two bands with a difference in size of nine base pairs could be shown. Sequencing of the lower molecular weight band confirmed the deletion of the nine base pairs involving codons 1003–1006 of COL1A2. The deletion introduced aSfiI restriction site that was used for confirmation of the deletion in genomic DNA from the proband. The deletion resulted in the removal of three amino acids (Gly-Pro-Pro), but this did not disrupt the Gly-X-Y sequence of the collagen triple helix, as is often the case in the more common glycine substitutions. We discuss the ways in which this deletion could result in osteogenesis imperfecta.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02185755
    Location Call Number Limitation Availability
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    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    Deletion of a Gly-Pro-Pro repeat in the proα2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 287-290 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have investigated one member of a family with dominant osteogenesis imperfecta type IV through three generations. In protein-chemical studies of cultured fibroblasts derived from the proband, collagen I was overmodified, with normal processing of procollagen I, normal thermal stability, and a cyanogen bromide peptide map that suggested a C-terminal location of the structural abnormality in the collagen triple helix. Sequencing of the gene encoding the α2(I) chain of collagen I (COL1A2) indicated a nine base-pair deletion of nucleotides 3418–3426. When a polymerase chain reaction product containing the nucleotides in question was electrophoresed in a 12% polyacrylamide gel, two bands with a difference in size of nine base pairs could be shown. Sequencing of the lower molecular weight band confirmed the deletion of the nine base pairs involving codons 1003–1006 of COL1A2. The deletion introduced a SfiI restriction site that was used for confirmation of the deletion in genomic DNA from the proband. The deletion resulted in the removal of three amino acids (Gly-Pro-Pro), but this did not disrupt the Gly-X-Y sequence of the collagen triple helix, as is often the case in the more common glycine substitutions. We discuss the ways in which this deletion could result in osteogenesis imperfecta.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02185755
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
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