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  • 1
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    Baltimore : Periodicals Archive Online (PAO)
    Human Biology. 39:3 (1967:Sept.) 224 
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  • 2
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    Unknown
    Baltimore : Periodicals Archive Online (PAO)
    Human Biology. 41:3 (1969:Sept.) 401 
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    International journal of legal medicine 72 (1973), S. 225-232 
    ISSN: 1437-1596
    Keywords: C3-Polymorphismus ; Vaterschaftsgutachten
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Zur Feststellung der Vererblichkeit und des Vererbungsmodus des C3-Proteins haben wir Phänotypenbestimmungen bei insgesamt 31 Zwillingspaaren (16 zwei-eiigen und 15 eineiigen), 24 Familien mit 43 Kindern und schließlich 34 Mutter-Kind-Paaren vorgenommen. Dabei haben wir eine autosomale, kodominante Vererbung dieser Serum-protein-Phä notypen feststellen können, was auch mit den Ergebnissen anderer Autoren über-einstimmt. Damit kann das vorliegende formalgenetische Modell als zutreffend gelten: drei Phänotypen (C3 S, SF, F) gesteuert von zwei autosomal kodominanten allelen Genen (C3S und C3F). Dies stimmt vollkommen überein mit den von anderen Autoren vorgenommenen Untersuchungen. Geschlechtsunterschiede in der C3-Phänotypenverteilung liegen nicht vor, da unsere Untersuchung an einer deutschen Stichprobe (96 Frauen und 114 Männer) keine signifikanten Unterschiede zeigte. Auch dies stimmte mit den bisherigen Ergebnissen anderer Autoren überein. Darüber hinaus haben wir die Anwendbarkeit und Aussagekraft dieses Systems bei Vaterschaftsnachweisen auf Grund der Auswertung der von uns errech-neten Genfrequenzen in Rheinland-Pfalz (C3S = 0,8071, C3F = 0,1928) überprüft, wobei wir ein relativ gutes Ergebnis erzielten, indem die theoretische Ausschlußwahrscheinlichkeit für das C3-System 13,14% beträgt. Durch Untersuchung von 27 Vaterschaftsgutachtenfällen konnte in 2 Fällen jeweils ein Mann allein auf Grund dieses Systems durch einen klassischen Ausschluß als Vater ausgeschlossen werden. Dies ergibt eine empirische Ausschlußquote von 7,40%. Der Grund dieser Diskrepanz zwischen theoretischer und empirischer Ausschlußchance wird nachstehend erörtert.
    Notes: Summary We have confirmed the autosomal, co-dominant mode of inheritance for the three common phenotypes for the C3 system proposed by other authors. This was done through the study of 31 twin pairs (15 monozygotic and 16 dizygotic), 24 families with 43 children and finally 34 mother-child pairs. The formal genetic model is a two allele (C3S and C3F) three phenotypes (S, SF, F) one, which is also in accord with the findings of other authors. There were no differences in the distribution of C3 phenotypes between the sexes basing on a study of 96 women and 114 men from the German population. These observations indicated the usefulness of applying this system in cases of disputed paternity. The theoretical probability of exclusion of a man falsely accused, based on this system is 13.14%. This probability is based on the gene frequencies of C3S = 0.8071 and C3F = 0.1928. Examination of 27 cases of disputed paternity enabled us to exclude one of the accused men in 2 cases based only on this system. Thus the empirical rate of exclusion is 7.40%. Possible reasons for the discrepancy are discussed.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 219 (1968), S. 950-950 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Table 1. FREQUENCIES OF PHENOTYPES AND GENES FOR SERUJ CHOLINESTERASE IN THE FOUR POPULATIONS STUDIED U I U T r F Population N n Per cent N Per eent n Per cent n Per cent Ef Ef E,f Icelanders 128 125 97-66 ? ? 3 2-34 __ __ 0-9883 __ 0-0117 Pakistanis 121 118 ...
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 6 (1968), S. 40-54 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The results of a population genetic investigation on Iranians are given and compared to the results obtained on other populations from Southwestern and Southern Asia. Our total material from Iran comprises n=1020 nonrelated male and female individuals of different age. The following serum groups have been typed: Hp, Gc, Gm, and Inv. In general there exist no remarkable age or sex differences in the distribution of phenotypes and alleles (the only exception: sex differences in the distribution of the Gm (7)-phenotype). The regional distribution of phenotypes and alleles yield no marked differences, too, apart from the Invphenotypes, however. For the total material of Iran the following alleles frequencies could be calculated: Hp1=0.3045, Hp2=0.6595, Gc2=0.3405; Gm1=0.1780, Gm1,2=0.0537, Gm1,5=0.0632, Gm5=0.7051. The Gm (7)-phenotype turned out to be 36.6%; the Inv (1)-phenotype amounts to 25.6%. Comparing with other populations, especially Pakistani and Indian samples, some heterogeneity in the distribution of phenotypes and alleles within Southwestern and Southern Asia was to be demonstrated. Some distributional trends of alleles frequencies shall be mentioned here: the increase of Hp2, Gc1, and Gm1 alleles from West towards East, and in the opposite direction the decrease of Hp1, Gc2, and Gm5 alleles. Selective acting forces are supposed to be most important factors for this.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 4 (1967), S. 352-361 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The authors report the results of a population genetic survey of the Dalasýsla region (West-Iceland). Our sample size includes n=193 male and female individuals of different age. These individuals are partly related. The following blood and serum groups were determined: ABO, MNS, Rh, P; Hp, Gc, Gm, InV, and Lp. In all these systems observed and expected phenotype frequencies are found to be in good agreement. The following gene frequencies turned out: p1 A=.0888, p2 A=.0456, qB=.0293, rO=.8363; pMS=.2256, pMs=.4474, pNS=.0540, pNs=.2730; cde=.4123, Cde=.0966, cDe=.0338, CDe=.2984, cDE=.1589; pP=.4833; Hp1=.5157, Hp2=.4843; Gc1=.7340, Gc2=.2660; Gm1=.1846, Gm1,2=.1444, Gm12=.6710. The frequency of the phenotype InV (1) comes to 17,6%, that of Lp (a+) amounts to 21,6%. In general the Icelandic phenotype and allele frequencies correspond to the European ones, especially to those observed in Northern Europe. In connection with this the authors discuss briefly, to what extent the present day phenotype distributions (especially concerning the ABO system) of Iceland may be interpreted with regard to historical facts and events. It is pointed out that at any rate also selective acting factors should be taken into consideration in order to interpret really the present day distributions. Within Iceland certain inhomogeneities in the phenotype distributions are present. Factors such as small population sizes, geographical isolation, and gene-drift are most likely responsible for this.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The deposition of βA4-amyloid in senile plaques in the brain and small cerebral vessels is one of the pathological hallmarks of Alzheimer’s disease (AD). Serine protease inhibitors (serpins) such as α1-antitrypsin and α1-antichymotrypsin have been found to be associated with β-amyloid deposits; interest in their role in the pathogenesis of AD has therefore recently increased. We have analyzed α1-antitrypsin phenotypes in a sample of 29 Polish patients with probable Alzheimer’s disease. We have found an increased frequency of the PI*M3 allele (0.1897) in patients in comparison with the general population control (0.0563).
    Type of Medium: Electronic Resource
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