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  • 1990-1994  (7)
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  • 1
    Electronic Resource
    Electronic Resource
    Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease (1992)
    [s.l.] : Nature Publishing Group
    Nature genetics 2 (1992), S. 216-222 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] No detectable rearrangements involving chromosome 4p16.3 have been observed in patients with Huntington's disease (HD). New mutations for HD could involve structural alterations which might aid the localization of the defective gene. We have reinvestigated a well documented sporadic case of HD. DNA ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng1192-216
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Exclusion of DNA changes in the β–subunit of the c–GMP phosphodiesterase gene as the cause for Huntington's disease (1992)
    [s.l.] : Nature Publishing Group
    Nature genetics 1 (1992), S. 104-108 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] To identify expressed sequences within candidate regions for the Huntington's disease (HD) gene in 4p16.3, we isolated the gene encoding the β subunit of the human cGMP phosphodiesterase (PDEB). We formally assessed this as a candidate gene for HD based on it's expression in brain, the ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0592-104
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 247-250 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The incidence of phenylketonuria (PKU) in the western part of Poland is 1 in 5000 live births. Restriction fragment length polymorphism (RFLP) haplotypes at the phenylalanine hydroxylase locus have been analysed in 46 Polish families with PKU. Among 43 fully-informative families 16 RFLP haplotypes were identified. Haplotype 2 is the most frequently (62%) associated with Polish PKU alleles, and the codon 408 mutation is in complete linkage disequilibrium with this haplotype in Poland. This finding is in agreement with observations in other eastern European countries (German Democratic Republic, Czechoslovakia, and Hungary) and in contrast to the genotype distribution observed in western European countries. The present observation suggests the spread of classical PKU, due to the codon 408 mutation associated with haplotype 2, from east to west in European populations. Perhaps more important for genetic counselling, 62% of all PKU chromosomes in the Polish population can now be detected using only one mutantspecific oligonucleotide probe.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00202402
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Toward the complete genomic map and molecular pathology of human chromosome 4 (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 1-18 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The identification of disease genes via molecular DNA cloning has revolutionized human genetics and medicine. Both the candidate gene approach and positional cloning have been used successfully. The defects causing Huntington's disease, facioscapulohumeral muscular dystrophy, piebaldism, Hurler/Scheie syndrome, one form of autosomal recessive retinitis pigmentosa, and a second locus for autosomal dominant polycystic kidney disease have recently been localized to chromosome 4. In addition to the rapid progress in the cloning of the 203-megabase chromosome, the presence of more than 60 closely spaced microsatellites on this chromosome will undoubtedly lead to the localization of additional disease genes. In order to consider cloned genes as potential candidates for disorders assigned to chromosome 4, it is important to collect and order all genes with respect to their chromosomal localization. Analysis of cytogenetically visible interstitial and terminal deletions should also be helpful in defining new disease gene loci and in mapping novel genes. These data represent the status quo of the integrated molecular map for chromosome 4.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02272834
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  • 5
    Electronic Resource
    Electronic Resource
    Chromosomal assignment of the human smg GDP dissociation stimulator gene to human chromosome 4q21-q25 (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 629-630 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The 3′-end of the cDNA encoding the smg GDP dissociation stimulator (smg GDS) protein shares 100% homology with the previously published expressed sequence tag 00038 site. This site extends the 3′-end of the smg GDS gene by 212 bp. It has been localized to human chromosome 4. Here, we have refined the localization of smg GDP to human chromosome 4q21-q25 using a mapping panel of rodent/human somatic cell hybrids containing different parts of chromosome 4. This chromosomal localization of smg GDP to 4q21-25 overlaps with a region of allele loss in primary hepatocellular carcinoma (4q13-q26).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00420952
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  • 6
    Electronic Resource
    Electronic Resource
    Simple repetitive (GAA)n loci in the human genome (1993)
    Weinheim : Wiley-Blackwell
    Electrophoresis 14 (1993), S. 973-977 
    Details
    ISSN: 0173-0835
    Keywords: Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: In order to investigate the organization (and inheritance) of simple tendem (GAA)n repeats in the human genome, different restriction enzymes were employed for DNA digestion followed by separation of the resulting fregments by agarose gel electrophoresis. Frequently cutting enzymes (4 bp recognition sites) revealed highly complex multilocus banding patterns after conventional horizontal submarine gels. Fragments larger than 25 kb, resulting from digestions with rarely cutting enzymes (6 bp recognition sites), were separated by pulsed-field gel electrophoresis (PFGE). Hybridizations were carried out directly in the gel matrix. Nearly all of the enzymes produce at least one predominant signal band after hybridization with (GAA)6. The frequency of (GAA)n stretches was estimated on human chromosome 4 by probing a respective cosmid library. In comparison with other simple di-, tri- and tetranucleotide repeats, (GAA)n stretches appear underrepresented. Hybridization of a fetal human brain cDNA library indicated very few expressed (GAA)n repeats. These data are discussed with particular reference to genomic organization and other simple repetitive trinucleotide stretches.
    Additional Material: 4 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/elps.11501401155
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    Paper (German National Licenses)
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  • 7
    Electronic Resource
    Electronic Resource
    Hybridization and polymerase chain reaction amplification of simple repeated DNA sequences for the analysis of forensic stains (1991)
    Weinheim : Wiley-Blackwell
    Electrophoresis 12 (1991), S. 181-186 
    Details
    ISSN: 0173-0835
    Keywords: Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: We have evaluated oligonucleotide hybridization and amplification techniques with regard to quantity and quality of genomic DNA that is under investigation in practical forensic case work. In order to obtain sufficient information from analyzing stain material, we use hypervariable simple repeat sequences for individualization, which occur in all eukaryotic genomes. For the analysis of larger amounts of stains (〉 500 ng DNA) the multilocus probes (CAC)5/(GTG)5Probes are written in capitals, genomic noncoding sequences in lower case are superior because of their discrimination potential - provided that the hybridizing DNA is of high molecular weight. The less discriminating probes (CT)8 and (GACA)4 are more sensitive (minimal amount: 100ng DNA) and still informative when the DNA is degraded. To increase the sensitivity of forensic stain analysis in special cases we have used the polymerase chain reaction technique to amplify hypervariable simple (gt)n/(ga)m repeat structures from the intron 2 of HLA-DRB genes. Largely independent of the starting amount of DNA and independent of the degradation status, we were able to generate discriminating DNA fragments, which can be used to type (i) microstains and (ii) totally degraded material including human mummy DNA.
    Additional Material: 6 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/elps.1150120214
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    Paper (German National Licenses)
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