Summary
300 unrelated individuals of the Austrian population and 110 families with 381 children have been typed by means of the microlymphocytotoxic test. The analysis of the results of this study shows that the HL-A-antigens are governed by 2 closely linked loci of an autosomal chromosome, the LA-locus with the genesHL-A1, HL-A2, HL-A3, HL-A9, HL-A10, HL-A11, Ba *,Li and the 4-locus with the genesHL-A5, HL-A7, HL-A8, HL-A12, HL-A13, R *,BB, FJH, MaKi, AA, MaPi, LND andET. Further, it was found that there must exist more antigens, which are not yet serologically detectable, within both loci. The genes of the HL-A-system are inherited as codominant characters. The gene frequencies of the individual determinants and the haplotype frequencies are calculated. The recombination frequency within the HL-A-system was found to be 0.38%. No evidence with regard to a selection could be recognized analysing the inheritence of the HL-A-genes. Basing on the genetical analysis, the efficiency of the HL-A-system in paternity cases is discussed. The chance of exclusion in false accusations of paternity was calculated by means of a formula developed for this purpose, which takes into account the linkage disequilibrium between the LA- and the 4-locus, and was found to be approximatively 76%.
Zusammenfassung
Die Analyse der Gewebstypen von 300 nichtverwandten Personen der österreichischen Bevölkerung und von 110 Familien mit 381 Kindern, die erstmals in diesem Umfang vorgenommen wurde, bestätigt die formalgenetische Hypothese der Vererbung des HL-A-Systems. Dieses System wird über 2 eng gekoppelte Loci eines Autosoms, den LA- und den 4-Locus, gesteuert, wobei an beiden Loci multiple Allelie vorliegt und die einzelnen Merkmale einen dominanten Erbgang aufweisen. Die Genfrequenzen der HL-A-Gene und die Haplotypenfrequenzen wurden errechnet. Die Häufigkeit der Rekombinationen innerhalb des HL-A-Systems wurde mit 0.38% ermittelt. Es wurde kein Anhaltspunkt für eine Selektion bei der Vererbung der HL-A-Merkmale gefunden. Basierend auf den formalgenetischen Untersuchungen wurde die Brauchbarkeit (Vaterschaftsausschlußchance) und die Wertigkeit (Beweiswert) des HL-A-Systems diskutiert. Zur Berechnung der Vaterschaftsausschlußchance wurde eine Formel, die das Koppelungsungleichgewicht der 2 Loci des HL-A-Systems berücksichtigt, entwickelt.
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National Blood Group Reference Laboratory (WHO), National Tissue Typing Reference Laboratory (Council of Europe).
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Mayr, W. Die Genetik des HL-A-Systems. Humangenetik 12, 195–243 (1971). https://doi.org/10.1007/BF00702775
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DOI: https://doi.org/10.1007/BF00702775