Beitrag zur Populationsgenetik der Pyruvatkinase menschlicher Erythrocyten

Summary In 214 healthy young Germans the activity of Pyruvatekinase from red blood cells has been determined. Three persons had values in the heterozygote range between 10.0 and 20.0 U. Suggesting a 2-allele-model the frequency of the three phenotypes in the German population can be calculated as followed: PK(A)=98.6%, PK(AB)=1.4%, PK(B)=0.005%.No correlation could be found between the distribution of blood-and serum-groups and the enzyme-activity.

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Direktor: Prof. Dr. med. G. W. Löhr

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Direktor: Prof. Dr. med. G. G. Wendt

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Mit dankenswerter Unterstützung durch die Deutsche Volkswagen-Stiftung.

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Herrn Professor Dr.H. E. Bock, Tübingen, zum 65. Geburtstag gewidmet. Wesentliche Teile dieser Arbeit werden von Olaf Praetsch der Medizinischen Fakultät als Dissertation vorgelegt.     

Beitrag zur Populationsgenetik der Glutathionreduktase menschlicher Erythrocyten

Summary The frequency of heterozygotes for the glutathione-reductase in a sample of 215 young healthy Germans is 1,9%. Suggesting a 2-allele-model we can calculate the frequency of the three phenotypes in the population: GR(A)=98,1%, GR(AB)=1,9%, GR(B)=0,009%. No correlation between blood-and serum-groups and the enzyme activity could be found.

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Direktor: Prof. Dr. med. G. W. Löhr

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Direktor: Prof. Dr. med. G. G. Wendt

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Mit dankenswerter Unterstützung durch die Deutsche Volkswagen-Stiftung. Herrn Professor Dr. H. E. Bock, Tübingen, zum 65. Geburtstag gewidmet. Wesentliche Teile dieser Arbeit werden von Andreas v. Lingen der Medizinischen Fakultät Marburg als Dissertation vorgelegt.     

Rubinstein-Taybi-Syndrom bei wahrscheinlich eineiigen Zwillingen

Summary The syndrome of broad thumbs and toes with facial abnormalities is described in twins who despite of probable monozygotic origin exhibit some true phenotypic differences.

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(Direktor: Prof. Dr. Dr. h. c. W. Lenz)     

Weitere Untersuchungsergebnisse zur Frage der unterschiedlichen Verteilung der ABO-Blutgruppen bei erstgeborenen und nachgeborenen Kindern

Summary The ABO blood group distribution among 1284 first-born children is compared with the frequency of the blood groups among 2388 later-born children. Among the later-born children the blood group O is more frequent, whereas the blood groups B and AB are rarer. From the fifth child on both the increase of the blood group O and the decrease of the groups B and AB become more evident. The total frequency of boys is practically the same both in the different blood groups and in the sum of all first and later-born children. Within the blood group O, however, boys are predominating among the first-born children, but are less numerous among the later-born children. Within the blood group AB on the contrary there is a lack of boys among the first-born children and an excess of boys among the later-born children. The same distribution but to a smaller extent might be found within the blood group B among a not selected material. In the same way the change of the sexual distribution seems to rise with the increasing number of children, as it appears from the rate from the fifth child onward.

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(Ärztl. Leiter: Prim. Dr. W. Kircher)     

Zur Populationsgenetik der Adenylatkinase: Genhäufigkeit in einer südwestdeutschen Stichprobe

Summary Adenylate kinase phenotypes were determined in 407 unrelated persons from Southwestern germany. The frequencies were estimated to be AK¹=0.969, AK²=0.031.

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Direktor: Prof. Dr. med. Dr. H. Baitsch

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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

Zur Frage der Zuordnung von Loci

Summary In addition to the loci excluded from the distal part of the short arm of chromosome 5 in the literature the genes coding for PGM₁, LDH B, and 6-PGD B do not lie on this segment.

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Direktor: Prof. Dr. Dr. H. Baitsch

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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

Zur Populationsgenetik der sauren Phosphatase der Erythrocyten (E C 3.1.3.2): Phänotypen-und Allelhäufigkeiten in Südwestdeutschland

Summary Within an population sample of 300 individuals of Southwestern Germany the red cell acid phosphatase polymorphism is investigated. Gene frequency estimates are: P^a=0.31, P^b=0.643, P^c=0.047.

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Direktor: Prof. Dr. med. Dr. H. Baitsch

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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

Serumgruppen und Krankheit

Summary This paper gives a statistical appraisal on the relationship between diseases and the serum-groups Hp, Gc, Gm, Lp and Ag. The material of all publications available to us until May, 1968 has been summarized by the method of Woolf.

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(Direktor: Prof. Dr. F. Vogel)     

Ein Fall mit einem Mosaik partielle Monosomie G/Monosomie G in den Lymphocyten des peripheren Blutes

Zusammenfassung Ein Fall mit einem Mosaik partielle Monosomie G/Monosomie G bei einem 20jährigen Jungen wird beschrieben. In Lymphocyten des peripheren Blutes liegen zwei verschiedene Zelltypen mit den Chromosomenkonfigurationen 45, XY, G-bzw. 46, XY, Gcen (p-, q-) vor. Das klinische Bild des Patienten weicht in vielen Punkten von dem früher beschriebener Fälle ab, so daß nicht von einem einheitlichen Syndrom gesprochen werden kann.

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Partial monosomy G/monosomy G mosaicism

Summary A case with partial monosomy G/monosomy G mosaicism is reported in a 20-year-old boy. In the peripheral blood lymphocytes two different cell types with the caryotypes 45, XY, G-and 46, XY, G cen (p-, q-) are present. The clinical picture deviates in many points from that described in earlier cases. Consequently one cannot speak of an uniform syndrome.

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(Leiter: Prof. Dr. med. O. Hug)

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(Direktor: Prof. Dr. Dr. G. Bodechtel)     

Zur formalen Genetik des Duffy-Systems

The formal genetics of the Duffy-polymorphism was examined, using reagents Anti-Fy(a) and Anti-Fy(b). Our family series comprises 247 unselected families from the southwestern part of Germany with 459 children; extramarital children are excluded from this investigation. The results agree with the hypothesis 3 alleles Fy^a, Fy^b, Fy at an autosomal locus.

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Direktor: Prof. Dr. Dr. H. Baitsoh

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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

Die Korrelation von Blutgruppenantigenen und-substanzen mit hypertonischer Erkrankung

We have investigated in 383 hypertonics, 151 males and 232 females, the AB0 blood groups, secretion of blood group substances AB0 (H), Rh₀ (D) factor, M and N groups and haptoglobin groups in the serum.Most patients were 40–50 years old and older, suffering from a fixed arterial hypertension with a diastolic blood pressure not lower than 110 mm Hg. All patients with renal, matabolic or nervous disorders were excluded from our series.In comparison with normal values in Czechoslovak population a significantly lower percentage was ascertained of nonsecretors of group substances in both sexes of B group hypertonics. In 72 persons of group B there were 8 nonsecretors i.e. 11.11% as compared with 37.84% nonsecretors in normal population; for 1 degree of freedom P < 0.001, for 4 degrees of freedom P < 0.05.Furthermore, in male hypertonics a preponderance of 0 over A, in female hypertonics that of A over 0 were ascertained. There were 39.07% male hypertonics of blood group 0 in comparison with 33.25% of group 0 in normal population and 28.88% in female hypertonics.In males hypertonics the blood group A appeared in 33.11%, the normal values being 40.79% and the incidence in females hypertonics being 45.26%.These differences achieved statistically significant values only in mutual comparison of the male and female group of hypertonics.In distribution of characters M/N and haptoglobin types no deviations from normal values were observed.

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Technische Mitarbeit: B. Knedlhansová und J. Benetková     

Einfluß von Pockenimpfviren auf menschliche Chromosomen in vivo und in vitro

Zusammenfassung Menschliche Lymphocyten, die am 6., 9. und 12. Tag nach Pockenschutzimpfung kultiviert wurden, zeigten keine sicher verwertbaren Chromosomenanomalien. Nach Infektion menschlicher Lymphocytenkulturen hemmt Vaccinevirus die Mitosen und zerst?rt die Zellen in toto parallel zur Dauer der Einwirkung. Numerische und strukturelle Ver?nderungen an den Chromosomen wurden nicht beobachtet.

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The influence od vaccinia viruses on human chromosomes in vitro and in vitro

Summary Contradictory views are expressed in the literature on the question as to whether viruses induce anomalies in chromosomes. Vaccinia viruses in particular are generally stated to cause chromatid and chromosome breakage in L-cells (human embryonal lung tissue). The subject of the present paper is an experimental investigation of the effect of vaccinia viruses on the chromosomes of human blood lymphocytes. In the in vivo portion of this investigation the chromosomes were examined during and after viremia subsequent to vaccination. Only two of the eight vaccinated children examined showed a larger number of chromosome breaks during viremia than unvaccinated controls. This might possibly be due to different degrees of viremia, although local and general reactions were the same. Other causes might also be sought in vivo or in vitro, such as preparation of the chromosomes, or an unnoted mycoplasma infection of the lymphocyte cultures. In the in vitro portion of this investigation, cultures of human lymphocytes were infected with vaccinia viruses at different stages of incubation. In culture the virus concentrations exhibited a rapid initial decrease, which gradually tapered off during the period of observation. No increases in virus concentration were noted. The longer the period of infection with caccinia virus, the less growth shown by the lymphocytes, and the more mitotic cells with in toto destruction of the chromosome. Anomalies in individual chromosomes were not observed any more frequently than in controls.

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(Direktor: Prof. Prof. Dr. ?. Kerpel-Fronius)

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(Direktor: OMR Prof. Dr. med. habil. W. Plenert)

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(Direktor: Prof. Dr. G. Veres)     

Beitrag zur Genetik der Erythrocyten-Phosphoglucomutase

Summary Blood samples from 515 unrelated individuals and from 41 families with 80 children living in Hessen (Germany) were examined for erythrocyte phosphoglucomutase (PGM₁) polymorphism. The gene frequences especially fit well with those obtained in Berlin and Danmark. The family studies verify the supposed way of heredity without any exception.

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Direktor: Prof. Dr. W. Spielmann     

Quantitative Untersuchungen über Chromosomenmutationen bei menschlichen Leukocyten durch Cyclophosphamid nach Aktivierung an Leberschnitten

Summary Comparable results of chromosomal damage were obtained in human leukocyte cultures by cyclophosphamide after its incubation with liver slices in Warburg vessels. The dose-rate-effects of the activation products and the distribution of 1000 breaks in different chromosome segments were similar to other cyclophosphamide derivatives already analysed. The nonrandom distribution of breaks was statistically significant.

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Direktor: Prof. Dr. H. Frhr. von Kress     

Dominant erbliche doppelseitige Dysplasie und Synostose des Ellenbogengelenks

Symmetrical dysplasia of the elbow joint and humero-radial synostosis together with brachymesophalangism, shortening of metacarpale I, and synostosis of carpal and tarsal bones in a boy, his mother and most probably also his grandmother is described. The combined malformations resemble closely those reported in a father and his daughter by Joachimsthal and in a father and his son by Mouchet and Saint-Pierre. It is suggested that this may represent a distinct hereditary entity.

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Kommissarischer Direktor: Prof. Dr. G. Jentschura     

Ein Verbesserter Käfig für die Massenzucht des EiparasitenTrichogramma [Hymenoptera,Chalcidoidea]

Summary A cage for mass-breeding egg-parasites of the genusTrichogramma is described. The following features are essential for this purpose: tightness, a device for anaesthetizing the adults, and the possibility to observe the wasps without opening the cage.

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Dem Direktor des Instituts, Herrn Professor Dr.J. M. Franz, danke ich für sein stetes Interesse und jederzeitige Unterstützung der Arbeiten, der Deutschen Forschungsgemeinschaft für die finanzielle F?rderung.     

Zur populationsgenetik der phosphoglucoseisomerase (EC: 5.3.1.9)

Summary In a population sample of 728 unrelated individuals from Marburg one variant PGI 5-1 was found.

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Direktor: Prof. Dr. Dr. H. Ritter

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Direktor: Prof. Dr. G. G. Wendt

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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

Die Serumgruppen-Systeme Lp(a), Gm(a), Gc und Hp bei Cerebralsklerotikern

Zusammenfassung Im genetisch determinierten Lp(a)-System war die Häufigkeit von Lp(a+) bei 307 Cerebralsklerosefällen statistisch signifikant erhöht im Vergleich zur Lp(a+)-Häufigkeit der gleichen Population. In den Systemen Gm(a), Gc und Hp wurde dagegen keine Veränderung der Genotypenhäufigkeit infolge der arteriosklerotischen Erkrankung festgestellt.

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In the genetically determined Lp(a) system the frequency of Lp(a+) showed with 45.6 per cent a statistically significant raise in 307 patients with cerebral sclerosis compared with 38.7 per cent in normal population. The increase of Lp(a+) is almost exclusively confined to weakly positive precipitation and is discussed in connection with the often observed increase of -lipoprotein concentration in the serum of arteriosclerotic persons. As expected no changes of genotype frequency due to arteriosclerotic diseases has been stated in the Gm(a), Gc and Hp system.

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Herrn Medizinalrat Dr. Wieder, Ärztlicher Direktor des Bezirkskrankenhauses, sind wir für die Überlassung der Blutproben zu besonderem Dank verpflichtet.

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(Direktor: Obermedizinalrat Dr. med. K. Thomas)     

Die Verteilung der Haptoglobin-Phänotypen und Haptoglobin-Allele bei der Lungentuberkulose

Summary The frequency of the three most common haptoglobin-phenotypes and haptoglobin-alleles has been determined in 684 propositi with pulmonary tuberculosis. The distribution in this disease has been compared with 685 serum samples of healthy inhabitants of Süd-Niedersachsen with a Hp¹ frequency of 0.4058. The frequency of the gene Hp¹ in pulmonary tuberculosis is 0.4232, in open pulmonary tuberculosis (n=328) 0.4278 and in closed pulmonary tuberculosis (n=356) 0.4199. The differences are statistically not significant in the several comparsions. There are no correlations between serum haptoglobins and pulmonary tuberculosis.

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(Direktor: Prof. Dr. med. P. E. Becker)     

A statistical appraisal on the relationship between non-ABO blood group systems and diseases

The present review was visualised as a search for relationship between non-ABO blood group systems including the AB(H) secretor types and susceptibility to representative group of diseases associated with various systems of the body. The materials were collected from all publications available to us during 1950–1967. For statistical evaluation, the method of Woolf (1955) was followed. It becomes evident from the various reports that many of the authors were aware of the possible biases, and did their best to avoid them. Three degrees of probabilities have been considered.The possible association of certain diseases to particular blood groups or types has been discussed. It is the main purpose of this review to show, where there are possible relationships, and to encourage further investigations in the same direction.Direktor: Prof. Dr. F. Vogel