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  • 1
    Electronic Resource
    Electronic Resource
    Identification of three novel mutations in the CFTR gene using temperature-optimized non-radioactive conditions for SSCP analysis (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 154-158 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Optimal temperature conditions for the detection of 28 known mutations on 15 exons of the human cystic fibrosis transmembrane conductance regulator gene by single strand conformation polymorphism analysis using the Diagen TGGE Apparatus were established. This procedure was applied to the detection of unknown mutations in 58 non-deltaF508 chromosomes. Three novel mutations,-471del3 (5′ flanking region), 3171insC (exon 17a) and 4700(T)8/9 (3′ non-translated region) of the CFTR gene were found. Mutation 3171insC occured in conjunction with the delta F508 mutation on the other allele of a child presenting with severe pathology. Mutation -471 del3 has so far only been found in one healthy individual and her father, and 4700(T)8/9 is a DNA sequence polymorphism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00202861
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    A pooling strategy for heterozygote screening of the ΔF508 cystic fibrosis mutation (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 289-291 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A theoretical and practical approach to economize the analysis of large DNA sample numbers for identifying heterozygosity of the ΔF508 mutation causing cystic fibrosis is presented. Sample pooling can reduce the number of polymerase chain reaction (PCR) tests for this mutation by up to 77%. Based on a mathematical model, the optimal number (n) of samples to be united in one pool is 24 for a German population with a ΔF508 heterozygosity incidence of about 1/35. We show that the PCR method is sufficient to detect one heterozygote for the ΔF508 mutation in a pool of up to 49 non-delated DNA samples.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00202411
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    BRCA1 mutation update and analysis (1996)
    Springer
    Journal of cancer research and clinical oncology 122 (1996), S. 702-706 
    Details
    ISSN: 1432-1335
    Keywords: BRCA1 ; Mutations ; Human hereditary breast cancer
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The discovery of theBRCA1 gene involved in the development of human hereditary breast cancer led to extensive international efforts to identify the mutations leading to the disease. The new listing covers 127 mutations published in the indicated papers before 30 April 1996; 55% of the mutations are localized in exon 11, followed by exons 2 (5.5%), 5 and 16 (4.7% each).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01209036
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    Paper (German National Licenses)
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