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  • 1980-1984  (4)
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Year
  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 66 (1984), S. 92-95 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The isoelectric focusing study of esterase D in Japanese revealed evidence of a new polymorphic allele (EsD 7) which is difficult to find by conventional starch gel electrophoresis only. A comparison with the occurrence of a subdivision of EsD 2 in Caucasians (EsD 5) suggests a remarkable difference in allele distribution of esterase D among races. Quantitative analysis showed a relatively low value of enzyme activity for this new allele. It is therefore emphasized that in addition to conventional electrophoresis, enzyme assay and further detection by isoelectric focusing are essential in analyzing the esterase D system.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary C33k polypeptide, which is a cytosol polypeptide with molecular weight of 33000 and approximate pI value of 7.5, has three common electrophoretic phenotypes and is an abundant polypeptide in peripheral blood lymphocytes, fibroblasts and red blood cells. Family and population studies indicate that the three phenotypes of C33k polypeptide are determined by two common alleles at a single autosomal locus. The gene frequencies of the two common alleles were 0.642 and 0.358, respectively, in a Japanese population. Since esterase D has a subunit size and gene frequencies similar to those of C33k polypeptide, the phenotypes of C33k polypeptide and esterase D were compared in 18 families totaling 72 members. Perfect concordance of the phenotypes between C33k polypeptide and esterase D was observed in all 72 members. In addition, a gene dosage effect on the expression of the phenotype of C33k polypeptide was observed in the red blood cell lysate from a patient with partial 13q trisomy who was reported to have two doses of EsD 1 and one dose of EsD 2. These data indicate that the polymorphic C33k polypeptide is esterase D, which is assigned to chromosome 13q14. This finding is useful for the detection of proteins coding for by chromosome 13q14-linked genes in the studies on human gene mapping using somatic hybrid cell lines and two-D gel electrophoresis.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 62 (1982), S. 246-249 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In screening of the PGM system by isoelectric focusing a heterozygote with a rare allele of PGM 2was detected. Family studies and family register checkings for the propositus showed evidence of hereditary occurrence of this allele, and all the ancestors of the propositus were Japanese. Although there have been no reports among Mongoloids, the variant found in the present study is likely to be the first case of a rare phenotype of PGM 2among such populations. In addition, isoelectric focusing data on 411 Japanese samples are given.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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