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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
    Isolation of DNA from the centromere of human chromosome 7 by microdissection (1997)
    Springer
    Chromosome research 5 (1997), S. 215-220 
    Details
    ISSN: 1573-6849
    Keywords: centromere of human chromosome 7 ; chromosomal microdissection ; microdissection library ; physical mapping ; STS analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Centromeres remain the least characterized regions of human chromosomes because they have a very high content of repetitive DNA. Here, we describe a micro-dissection library from the centromeric region of human chromosome 7 and its use for generating sequence tagged sites (STSs). The library contains about 1500 clones with an average insert size of 150 bp and only about 15% of the clones harbour repetitive human DNA. Seven clones hybridizing to alphoid DNA were found to correspond to a fragment of the D7Z2 alphoid array on chromosome 7, thus confirming the origin of the library. A number of clones not containing known repetitive DNA were used to generate STSs that identified yeast artificial chromosomes (YACs) and in turn allowed the STSs to be placed on the physical map. One STS is located between the two Genethon genetic markers closest to the centromere on the q side. Another STS was located 3–4 cM away in 7q11.2, while a third identified YACs containing both low-copy and alphoid sequences that are not yet mapped but are clearly centromeric. The library therefore comprises a collection of sequences from the centromeric region of chromosome 7 that can be used to generate STSs and to map the entire centromeric region.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1018459300978
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    Paper (German National Licenses)
    Fulltext
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