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  • 1
    Electronic Resource
    Electronic Resource
    Novel mutations of the peripheral myelin protein22 gene in two pedigrees with Dejerine-Sottas disease (1998)
    Springer
    Human genetics 〈Berlin〉 102 (1998), S. 294-298 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Peripheral myelin protein22 (PMP22), a membrane glycoprotein, plays a significant role in the formation and/or maintenance of compact myelin in the peripheral nervous system. We studied two pedigrees with Dejerine-Sottas disease and identified two novel mutations in the PMP22 gene: one a 2-bp deletional mutation at nucleotide positions426 and 427 of exon4 (this is predicted to alter the reading frame at leucine80 and thus to lead to frame-shifted translation), and the other a guanine to thymine substitution at nucleotide position636 leading to a cysteine substitution for glycine150. Both mutations were located in the putative transmembrane domains reported in many cases of Charcot-Marie-Tooth neuropathy, Dejerine-Sottas disease, and hereditary neuropathy with liability to pressure palsies. The results suggest an important role for the putative transmembrane domains of PMP22 in its function.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050694
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    O-gene detection by allele specific amplification in the ABO blood group system (1994)
    Springer
    Journal of human genetics 39 (1994), S. 293-297 
    Details
    ISSN: 1435-232X
    Keywords: ABO ; blood group ; O-gene ; allele specific ; PCR
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have constructed a fast and easy method for the detection ofO-gene in the ABO blood group system. Our method included allele specific amplification using polymerase chain reaction (PCR) and subsequent analysis with polyacrylamide gel electrophoresis (PAGE) and silver staining.O-gene product was observed on the gel in 25 DNA samples from group O phenotype and 20 DNA smaples from group A or B (genotypeAO orBO) persons. No product was found in 10 DNA samples from group AB phenotype.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01874047
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Detection of isozymes of deoxyribonucleases I and II on electrophoresed gels with picogram sensitivity using SYBR green I (1998)
    Weinheim : Wiley-Blackwell
    Electrophoresis 19 (1998), S. 2416-2418 
    Details
    ISSN: 0173-0835
    Keywords: Deoxyribonuclease ; Fluorescent dye ; Isoelectric focusing ; Polymorphism ; Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: A highly sensitive method for detecting deoxyribonucleases (DNases) I and II on an electrophoresed gel is described. A dried agarose film sheet containing DNA as a substrate and a buffer reagent was placed in contact with the gel surface after electrophoresis (DAFO method, Yasuda et al., Anal. Biochem. 1989, 183, 84-88). After an appropriate incubation period, the film sheet was peeled off and stained with SYBR-Green I (SG), and then the DNase isozyme bands were detected using a fluorescence image analyzer. We could detect pg levels of the DNases (DNase I, 2 pg; DNase II, 2pg), which represents a 32- to 128-fold increase in sensitivity compared with the original DAFO method using ethidium bromide (EB) as the fluorescent dye. A combination of this new detection method and isoelectric focusing electrophoresis in polyacrylamide gel allowed accurate DNase I typing from 1 μL human serum. This new technique has been named SG-DAFO, after its original dried agarose film overlay method using EB (EB-DAFO).
    Additional Material: 2 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/elps.1150191410
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  • 4
    Electronic Resource
    Electronic Resource
    The fifth allele of the human deoxyribonuclease I (DNase I) polymorphism (1997)
    Weinheim : Wiley-Blackwell
    Electrophoresis 18 (1997), S. 1936-1939 
    Details
    ISSN: 0173-0835
    Keywords: Deoxyribonuclease I ; Polymerase chain reaction amplification ; Single-strand conformation polymorphism ; Isoelectric focusing ; Polymorphism ; Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: The fifth allele, DNASE1*5, of human deoxyribonuclease I (DNase I) has been discovered. Polymerase chain reaction fragments containing exon 5 of the DNase I gene were screened for DNA polymorphism using single-strand conformation polymorphism (SSCP) analysis. DNAs from 114 unrelated Japanese and 81 German individuals were tested and a new variant was detected. By DNA sequencing analysis, this variant was found to be caused by a heterozygous G-A transition at nucleotide position 1227 that results in a Val to Met substitution at amino acid position 92 of the mature enzyme. The nucleotide substitution was also confirmed by mismatched polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) analysis. Genotyping of the variant could be carried out by three independent reactions based on PCR amplification, and phenotyping by isoelectric focusing followed by immunostaining. The results supported the presence of the fifth codominant allele, DNASE1*5, which generates a new isozyme.
    Additional Material: 2 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/elps.1150181108
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    Paper (German National Licenses)
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