D. Patzelt

Isoelectrofocusing in the study of the Bf system: existence of two common subtypes of the BfF allele.

Abstract. The inherited polymorphism of the properdin factor B (Bf system) was studied by isoelectrofocusing in polyacrylamide gel (PAGIF, pH range 5.0–8.0), followed by immunofixation. Using the described technique, two different subtypes of F bands are visible (designated as F‘ and F“). Studies of 13 families and 48 mother‐child pairs are not in contradiction to the assumption of a codominant inheritance by two alleles (BfF’ and BF”) at a single locus.

Haptoglobin subtypes in Berlin, GDR

SummarySera were obtained from 1,275 blood donors in Berlin, probands involved in paternity tests, and from 119 families with 235 children; the sera were subtyped by isoelectric focusing, following preparation and reductive molecular cleavage of haptoglobin. In this paper, an uninvolved preparation technique is described for routine testing. Allelic frequencies are: Hp *1F=0.1471; *1S=0.2502; *2FF=0.0020; *2FS=0.5753; *2SS=0.0251. Only one deviation from autosomal codominant inheritance was recorded in the family examinations, with illegitimacy considered possible. In the region of Berlin, the changes of ruling out uninvolved individuals in paternity suits have gone up from 18% (conventional technique recording two frequent alleles) to 33% (subtyping).ZusammenfassungSeren von 1275 Berliner Blutspendern und Probanden aus der Paternitätsbegutachtung sowie von 119 Familien mit 235 Kindern wurden im Hp-System mittels isoelektrischer Fokussierung nach Präparation und reduktiver Molekülspaltung des Haptoglobin subtypisiert. Es wird ein einfaches Präparationsverfahren vorgestellt, das eine routinemäßige Untersuchung gestattet. Die Allelfrequenzen betragen: Hp *1F=0,1471; *1S=0,2502; *2FF=0,0020; *2FS=0,5753; *2SS=0,0251. Die Familien-untersuchungen ergaben nur eine Ausnahme vom angenommenen autosomal-kodominanten Erbgang, Illegitimität ist möglich. Die isolierte Ausschlußchance mit Hp für Nichtväter steigt im Berliner Raum von 18% (herkömmliche Technik mit Erfassung zweier häufiger Allele) auf 33% (Subtypisierung).

Spurenkundliche Identifizierung von Neugeborenen-bzw. Fetalblut mittels alpha1-Fetoprotein-Präcipitation

SummaryDetermination of alpha1 fetoprotein (AFP) was carried out by means of immuno-electroosmophoresis in agar gel and the use of a specific (anti-AFP) rabbit immune serum. The detection of AFP in experimentally produced blood stains from newborns was still possible after 3 months storage at room temperature. A positive result in the examination of blood stains is an important clue that the stain may originate from a fetus, a newborn or a very young infant (rare exceptions are possible in adults with neoplastic diseases, especially with primary liver carcinoma).ZusammenfassungZur spurenkundlichen Identifikation von Blutspuren kann der Nachweis des alpha1-Fetoproteins (AFP) in der Überwanderungselektrophorese mittels Heteroimmunserums herangezogen werden. Eine AFP-positive Spur läßt auf Herkunft von einem Feten oder Neugeborenen (bzw. sehr jungen Säugling) schließen, wobei differentialdiagnostisch lediglich eine Verursachung durch Patienten mit seltenen Krebserkrankungen (insbesondere mit primärem Lebercarcinom) in Betracht gezogen werden muß. Die Untersuchung künstlich erzeugter Spuren von Neugeborenenblut erbrachte nach Lagerung bei Zimmertemperatur eine Nachweisbarkeit des AFP für bisher 12 Wochen Lagerungszeit.

Studies into Structure and Inheritance of the Genetics Hp Ca-Variant

Several theories exist on the nature of the Carlberg variant (Galatius-Jensen, 1958): Parker and Bearn (1963) assumed that possibly there was a gene complex consisting of a normal Hp*1-, a normal Hp*2- genes. According to studies by Giblett (1964), Hp Ca was characterised by reduced production of Hp 1-units. Henningsen and co-workers (1977) confirmed Giblett’s assumption and produced evidence to the effect that reduced production applied exclusively to the gene product of the Hp*1S-gene. That phenomenon has been attributed to a mutated regulator gene that is closely linked to the Hp*1S-gene.

[Gc subtypes: demonstration using isoelectric focusing. Study of population and formal genetics].

SummaryGc-subtypes were determined by isoelectric focusing and immunfixation on samples from 492 unrelated blood donors from Berlin. The frequency of the three genes was found to be Gc1F = 0.1270, Gc1S = 0.6006, Gc2 = 0.2724. Analysis of 78 parents with 190 children did not show deviations from the expected mode of inheritance. Investigation of the adults from paternity cases and of their children on the other hand obtained similar results. No rare alleles were observed.ZusammenfassungDie Gc-Subtypen wurden an Seren von 492 unausgewählten Berliner Blutspendern durch isoelektrische Fokussierung und Immunfixation bestimmt. Die Allelfrequenzen betragen: Gc1F = 0,1270, Gc1S = 0,6006, Gc2 = 0,2724. Die Untersuchungen an 78 Familien mit 190 Kindern ergab keine Abweichung vom angenommenen, autosomal kodominanten Erbgang. Die Untersuchungen von 636 Erwachsenen aus dem laufenden Paternitätsmerkmal sowie von 205 Kindern ergab annähernd gleiche Ergebnisse. Seltene Allele wurden im vorliegenden Material nicht beobachtet.Gc-subtypes were determined by isoelectric focusing and immunfixation on samples from 492 unrelated blood donors from Berlin. The frequency of the three genes was found to be GcIF = 0.1270, GcIS = 0.6006, Gc2 = 0.2724. Analysis of 78 parents with 190 children did not show deviations from the expected mode of inheritance. Investigation of the adults from paternity cases and of their children on the other hand obtained similar results. No rare alleles were observed.

Effects of ultraviolet irradiation on the electrophoretical typing of serumprotein polymorphisms

For many years a therapy has existed using the retransfusion of blood after ultraviolet irradiation (the socalled “ultraviolet autologous blood irradiation”) (Wiesner 1967, Wiesner et al. 1986). The mechanisms of this therapy are still poorly unterstood. Up to now an extensive clinical study is still missing. Hence this therapy can rightly be regarded as a matter for scientific dispute.

Zur Typisierung im C3-System: Hemmung der Konversion mittels EDTA-Na2 (Chelaplex III)

SummaryBy addition of EDTA-Na2 (Chelaplex III) to fresh sera the possibility for typing of C3-polymorphism is prolonged. Using a final concentration of 45.6 mmol EDTA-Na2/1 the conversion is inhibited, and the C3 determination in serum by means of high voltage electrophoresis succeeds even after storage at room temperature during 6 weeks.ZusammenfassungDurch Zusatz von EDTA-Na2 (Chelaplex III) zu frischen Serumproben verlängert sich die Nachweisbarkeit des humanen C3-Polymorphismus. Durch eine Konzentration von 45,6 mmol EDTA-Na2/1 tritt im Serum eine Konversionshemmung auf, die die C3-Typisierung in der Agarosegel-Hochspannungselektrophorese auch noch nach 6-wöchiger Raumtemperaturlagerung ermöglicht.