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  • 1
    Electronic Resource
    Electronic Resource
    Use of genetic markers to certify fetal origin of cultured amniotic fluid cells (1981)
    Springer
    Human genetics 〈Berlin〉 57 (1981), S. 323-324 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Phenotypes of five polymorphic enzymes: red cell acid phosphatase, phosphoglucomutase, esterase D, adenosine deaminase, and 6-phosphogluconate dehydrogenase were determined in extracts of 24 amniotic fluid cell cultures and in the corresponding maternal red cells. Twenty-one of the 24 fetus/mother pairs can be distinguished by at least one of the markers. Thus, polymorphic enzyme markers may be useful in affirmation of fetal origin of cultured cells and to avoid possible diagnostic errors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278954
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  • 2
    Electronic Resource
    Electronic Resource
    Some red cell enzyme phenotype frequencies in Chinese (1973)
    Springer
    Human genetics 〈Berlin〉 17 (1973), S. 341-343 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Acht Enzyme wurden in roten Blutzellen von 160 Bewohnern von Taiwan bestimmt: Phosphoglycerat-Kinase; lösliche Glutamin-Oxalessigsäure-Transaminase (S-GOT); Glutamin-Brenztramidensäure-Transaminase (GPT); Isocitronensäure-Dehydrogenase; Adenosin-Deaminase (ADA); Peptidase A; Peptidase B; “Indophenol-Oxidase”. Nur GPT und ADA zeigten einen Polymorphismus; die Genhäufigkeiten für GPT1 und ADA1 lagen bei 0,51 bzw. 0,95. Bei dieser speziellen Bevölkerung wurde keine Variation der S-GOT festgestellt, obwohl eine Genhäufigkeit für das atypische Allel von 0,02 auf Grund früherer Untersuchungen bei asiatischen Bevölkerungen erwartet worden war. Die untersuchten Stichproben waren 1960 gesammelt worden und wurden seitdem in Glycerin aufbewahrt. Dies zeigt, daß vernünftige Ergebnisse auch mit Blutproben erarbeitet werden können, die für längere Zeit aufbewahrt wurden.
    Notes: Summary Eight enzymes: phosphoglycerate kinase, soluble glutamic oxaloacetic transaminase, glutamic-pyruvic transaminase, isocitric dehydrogenase, adenosine deaminase, peptidase A, peptidase B, and “indophenol oxidase” were examined electrophoretically in red cells from 160 Taiwanese samples. Only GPT and ADA were found to exhibit polymorphism, the gene frequency for GPT1 and ADA1 being about 0.51 and 0.95 respectively. No S-GOT variation was identified in this particular population, although an atypical gene frequency of 0.02 was anticipated from prior surveys of Asiatic groups. These samples were collected in 1960 and preserved in glycerol indicating that meaningful results can be obtained on specimens stored for prolonged periods.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273190
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  • 3
    Electronic Resource
    Electronic Resource
    MspI polymorphic site within the Factor IX gene (1987)
    Springer
    Human genetics 〈Berlin〉 76 (1987), S. 262-264 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have localized the position of the MspI polymorphic site that exists within the factor IX gene. The location of the MspI polymorphic site is within intro D, 1.9 kb upstream from the beginning of exon V and 4 kb downstream from a known polymorphic TaqI site. The use of a specific genomic probe simplifies the interpretation of the MspI polymorphism by reducing the number of non-overlaping DNA fragments to three bands; 2.4, 3.4, and 5.8 kb.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00283620
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  • 4
    Electronic Resource
    Electronic Resource
    Restriction fragment length polymorphism of human aldehyde dehydrogenase 1 and aldehyde dehydrogenase 2 loci (1989)
    Springer
    Human genetics 〈Berlin〉 83 (1989), S. 204-204 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two probes, ALDH1 and ALDH2, for restriction fragment length polymorphisms (RFLPs) are described, with notes on their locations and the RFLPs found with them.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00286722
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  • 5
    Electronic Resource
    Electronic Resource
    Gene frequencies of alcohol dehydrogenase2 (ADH2) and aldehyde dehydrogenase2 (ALDH2) in five Chinese minorities (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 571-572 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The gene frequencies of ADH 2 2 and ALDH 2 2 were lower in Tibetan and Mongolian populations than in Vietnamese, Han Chinese, and three Chinese minority populations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00211030
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  • 6
    Electronic Resource
    Electronic Resource
    Germ line origins of de novo mutations in hemophilia B families (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 299-302 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The germ line of origin for 13 of 14 de novo hemophilia B mutations has been determined. When added to previous reports, the origin, assuming no mosaicism, occurred in 43 female and 33 male gametes. Mutation rate estimates are twofold higher in males than in females. The pooled data also indicate that male and female germ lines have different mutation rates depending upon the type of mutation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00208288
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  • 7
    Electronic Resource
    Electronic Resource
    The factor IX BamHI polymorphism: T-to-G transversion at the nucleotide sequence-561 (1989)
    Springer
    Human genetics 〈Berlin〉 82 (1989), S. 283-284 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The polymerase chain reaction (PCR) method was used to amplify a 356-bp DNA segment containing the suspected BamHI polymorphic site of the factor IX gene. Following the enzyme digestions and gel electrophoresis, polymorphic genotypes (-,+ and +/- types) were observed. The gene frequencies for the rare (+) allele are about 36% in blacks and 2% in Caucasians. The 356-bp DNA was further purified and sequenced. The sequencing gels revealed a single nucleotide substitution (T to G) at position-561 of the gene in blacks and Causians. The T-to-G transversion generated a new BamHI site (GGATCC,+type) from a nonenzymatic site, (TGATCC,-type).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291171
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  • 8
    Electronic Resource
    Electronic Resource
    CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 177-182 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Hemophilia B is due to multiple molecular defects in the factor IX gene. Over 80% of mutations are single base substitutions. By amplification and direct sequencing, 51 single base substitutions were found in the transcribed sequence of the factor IX genes of patients from 50 distinct families with hemophilia B. These include 30 mutations in 29 families not previously reported by us; of these, 12 are novel, i.e., not previously published in other series. Of the 51 substitutions in our overall series 23 (45%) occurred as C-to-T or G-to-A transitions at 11 sites within CG dinucleotides. It is estimated that CG transitions occur from one to two orders of magnitude more frequently than mutations in nucleotides that are not within a CG pair. More than one family had identical defects for 6 of the CG mutations. At 4 of these sites, most patients had different haplotypes compatible with distinct mutations. Non-CG-type mutations occurred thoughout the coding regions with only one mutation in more than one family. The latter included 7 families with a 397 Ile-to-Thr defect that all share a rare haplotype, suggesting a common ancestor.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00204177
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  • 9
    Electronic Resource
    Electronic Resource
    Gene frequencies of alcohol dehydrogenase2 and aldehyde dehydrogenase2 in Northwest Coast Amerindians (1992)
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 351-352 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The frequencies of the alleles encoding isozymes of alcohol dehydrogenase and aldehyde dehydrogenase were low in Northwest Coast Amerindians compared to Chinese subjects.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00220558
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  • 10
    Electronic Resource
    Electronic Resource
    The genetics of glutamic-pyruvic transaminase in mice: Inheritance, electrophoretic phenotypes, and postnatal changes (1973)
    Springer
    Biochemical genetics 10 (1973), S. 23-28 
    Details
    ISSN: 1573-4927
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract Glutamic-pyruvic transaminase (GPT, E.C. 2.6.1.2) from 18 inbred strains of mice was subjected to starch gel electrophoresis. Two electrophoretic phenotypes were observed: a fast-migrating pattern in 16 strains and a slower-migrating pattern in two strains. A comparison of electrophoretic patterns of F1 and backcross progeny of two strains of mice showed that the inheritance of GPT is autosomal with two codominant alleles. The genetic locus for GPT is designated Gpt-1, and its two alleles are designated Gpt-1 a and Gpt-1 b to represent the fast-migrating (A) and slow-migrating (B) patterns. The GPT was expressed in 11 tissues with different amounts of enzyme activity. Developmental studies of GPT activity in liver showed that between 5 and 12 days after birth the mean activity was 10 units/g protein. Between 12 and 19 days, a dramatic rise in activity occurred and adult values of 300 units/g protein were reached by 26 days.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00485745
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