Search

A distinct sub-group of von Willebrand's disease is characterized by an electrophoretically faster mobility of the factor VIII related antigen. Some of the physico-chemical properties of this variant antigen were investigated in this communication. The effect of temperature was tested by heating aliquots (0.5 ml) for 20 minutes at 45°C, 56°C and 65°C. The variant was found to be denatured at 56°C while the control was denatured at 65°C. The effect of pH was tested by assessing the quantity (Laurell technique) and electrophoretic mobility (two dimensional immunoelectrophoresis) of the antigen in a variety of buffers ranging in pH from 7.0 to 9.5. The quantity of antigen was variable both among variants and controls and the electrophoretic mobility of the variant antigen was faster at all pH's. Molecular weight differences between the variant and controls were not detected since the chromatographic profile of the variant was similar to that of the controls in Sepharose 6 B using a 0.02 M Tris-NaCl buffer at pH 7.0. The affinity of the antigen for human antibody was geterogeneous although the variant exhibited less affinity for one of the human antibodies but not the other. The inhibitory effect was more pronounced in serum than in plasma. Purified IgG, however, did not show any inhibition, as the residual antigen assayed by the Laurell technique, was similar to the expected values. This would imply that non-IgG plasmatic factors could also play a part in the observed inhibition.

The phenotypes of placental alkaline phosphatase were determined in a sample of 231 Germans and 109 non-Germans. The observed gene frequencies of the German sample were $${\text{Pl}}^{{\text{S}}_{\text{1}} } {\text{ = 0}}{\text{.654}}$$ , $${\text{Pl}}^{{\text{F}}_{\text{1}} } {\text{ = 0}}{\text{.247}}$$ , and $${\text{Pl}}^{{\text{I}}_{\text{1}} } {\text{ = 0}}{\text{.097}}$$ . No association could be found with placental weight. Lower birth weight was correlated with an increase of the $${\text{Pl}}^{{\text{I}}_{\text{1}} } $$ gene frequency.

In a sample of 25 population groups, correlation coefficients were calculated between the proportion of AB0 blood-group incompatibility as well as the gene frequencies and haptoglobin and placental alkaline-phosphatase phenotypes and genotypes, separately. Correlation coefficients were also calculated between haptoglobin and placental alkaline phosphatase. A significant positive correlation was found between AB0 incompatibility and the PlF-gene frequency. There was a positive correlation between the Hp1-gene frequency and the 0 blood group, though no significant correlations were found between the proportion incompatibility and the Hp1-gene frequency. The results are discussed.

Several enzyme polymorphisms and hemoglobin variants were typed in a sample of n=219 non-related Greek blood-donors. The following gene frequencies were observed: pa=0.201, pb=0.701, pc=0.098; PGDA=0.985, PGDc=0.015; AK1=0.942, AK2=0.058; HbA=0.988, HbS=0.012. No polymorphic variation was seen in LDH, s-MDH, PHI, or SOD. The population genetical aspects of these results are discussed.

A multifactonal mode of inheritance is proposed for psoriasis, using the 1963 published data of Lomholt, from the Faroer Islands.

SummaryThe two antiproteases α1-antitrypsin (α1-AT) and antithrombin-III (AT-III) have been purified simultaneously from human plasma. Purification procedure consisted of gel filtration on Sephadex G-200 after initial processing of plasma, followed by ion exchange chromatography on DEAE-Sephadex A50 and DEAE-celllulose, at a pH of 9·0 and pH 8·3 respectively. The two proteins could not be separated by any of these procedures including a lower pH (7·4) in ion exchange chromatography. Affinity chromatography on heparin-Sepharose separated the proteins since α1-AT did not bind to the matrix. Alpha1-AT unbound to the heparin-Sepharose was subsequently purified through con A-Sepharose affinity column. The final yield of both the proteins was about 20%. The molecular weight estimated on SDS electrophoresis for AT-III and α1-AT was 63,000 and 50,000, respectively.Australian Journal of Experimental Biology and Medical Science (1979) 57, 245–250; doi:10.1038/icb.1979.26

The effect of the enzymes phospholipases C and D on Factor VIII were investigated. Phospholipase D was found to activate the partially purified intact Factor-VIII molecule maximally at a final concentration of 0.6 U/ml. Neither the dissociated small molecular weight component nor the high molecular weight component were activated. Phospholipase C, on the other hand, inactivated both the intact and the dissociated Factor-VIII molecule. Phospholipase D, however, had no effect on the haemophilic cryoprecipitate or the partially purified haemophilic Factor VIII. The implications of these results for the genetic control of the Factor-VIII molecule are discussed. In this connection, haemophilia A is hypothesized to be caused by an X-linked enzyme effect that impairs phospholipid assembly of the Factor-VIII protein, whereas von Willebrand's disease might be due to a structural defect of the Factor-VIII protein.

The south Asian summer monsoon from June to September accounts for the greater part of the annual rainfall over most of India and southeast Asia. The evolution of the summer and winter monsoon circulations over India is examined on the basis of the surface and upper air data of stations across India. The salient features of the seasonal reversals of temperature and pressure gradients and winds and the seasonal and synoptic fluctuations of atmospheric humidity are discussed. The space-time variations of rainfall are considered with the help of climatic pentad rainfall charts and diagrams. The rainfall of several north and central Indian stations shows a minimum around mid-August and a maximum around mid-February which seem to be connected with the extreme summer and winter positions of the ITCZ and the associated north-south shifts in the seasonal circulation patterns. Attention is drawn to the characteristic features of the monsoon rainfall that emerge from a study of daily and hourly rainfall of selected stations. Diurnal variations of temperature, pressure, wind and rainfall over the monsoon belt are briefly treated.

Red cell haemolysates from 103 psoriasis patients and 100 control persons were electrophoretically examined for G-6-PDH isoenzymes. In both groups, with the exception of one person with psoriasis, all people were found to have a single band, probably type B, the commonest type found in all populations. One psoriatic patient was found to possess an electrophoretically faster band with a normal enzyme activity however, of which the exact identification has not been possible up to now.

To elucidate the mode of inheritance in psoriasis, Falconer's model for estimating heritability which is under the assumption of multifactorial inheritance, was applied to the data of Hellgren (1967) from Sweden. The heritability estimates were based on both manifest and potential psoriasis since a clear separation of these two categories was impossible. These estimates were 64% for parents, 60% for siblings and 52% for all first degree relatives which included the children of psoriatic cases. For second degree relatives it was 48%. None of these differences are statistically significant. The results are discussed.

Summary The distribution of C'3 phenotypes in leprosy, rheumatism, diabetes, hyperlipedemia and hepatitis were studied. There was a significant excess of FF-phenotypes in patients with rheumatic factor while in hepatitis the SS-phenotype was significantly lower and a relatively high frequency of FF was stated. The results are discussed.

7 human red cell enzyme polymophisms have been typed on a sample of n=138 unrelated adults from Bulgaria, which revealed the following gene frequencies: ADA1=0.8623. ADA2=0.1376; AK1=0.9637, AK2=0.0362; 6-PGDA=0.9891, 6-PGDC=0.0108; PGM11=0.8346, PGM12=0.1653; PA=0.1596, PB=0.7983, PC=0.0420. In the LDH-system one B-subunit variant was found, whilst no Peptidase A or B variant could be observed. The anthropological significance of these findings is discussed.

Australia antigen typings on leprosy and control samples from West Bengal (India) and Angola (Africa) showed a considerably higher incidence of this antigen in lepromatous lepers as compared with other types of this disease resp. controls. By this the findings of Blumberg et al. (1967) in the Philippines could be confirmed. The possible reasons for this observations are discussed.

Basing on the data of 65 populations the geographical variability of the human red cell acid phosphatase phenotypes resp. alleles was studied. We found a marked distribution gradient: The frequency of pB-alleles increases with the increase of the mean annual temperature of the various biotops, whereas the pA-allele frequencies show a clear decrease. For this allele we calculated a significant negative correlation between its frequency and the mean annual temperature: r=-0.71; P<0.001. We suppose that the pB-allele is in some way adaptive under the climatic conditions of tropical biotops. The possible reasons are discussed.

The distribution of electrophoretic variants of 2 serum proteins and 5 red cell enzyme systems have been examined in 4 population groups from Tamilnadu.

The placental phosphoglucomutase phenotypes controlled by the first locus of 235 German and 119 non-German samples were determined. Both in the pooled material and in the sample containing German subjects only there was a significant deviation from the expected Hardy-Weinberg equilibrium. A segregation analysis of 1174 families also revealed significant deviations in the phenotypes of the children, though the mating frequencies were as expected. The distribution of the children's phenotypes deviated significantly from Hardy-Weinberg equilibrium though this was not found in the parent samples. The results are discussed.

Seven serum proteins were typed on a sample of 910 individuals from Angola, Africa. The sample consisted of both leprosy patients and healthy controls from the same geographical area. Significant associations with leprosy were found for the Hp and Pi systems. The results are discussed.

Tests for interaction between AB0 and Hp were performed in 1824 mother-child pairs. There was no significant difference in the Hp distribution between mothers and children. When the children were divided into AB0-compatible and AB0-incompatible with their mothers there was an excess of the Hp1 gene in the incompatible group. The results are discussed.

Abstract.: An infant with Leigh syndrome and associated cardiomyopathy is described. Abnormal activities of mitochondrial respiratory complexes III and V and a change in mtDNA at nt 8993 were detected in heart and skeletal muscle but not in liver.

We report the case of a child with severe hypertrophic cardiomyopathy, with decreased activity levels of cardiac mitochondrial respiratory complex I and III, and with a pronounced reduction in cardiac mitochondrial DNA copy number level. Mitochondrial DNA depletion has not been previously reported in hypertrophic cardiomyopathy and it may play a role in its pathogenesis.

THE relationship that exists between the distribution and frequencies of prominences at the limb of the sun and the sunspot cycle has been discussed by several workers1. The most outstanding feature is the existence of two distinct zones of prominence activity in each hemisphere. The low-latitude zones extending from the equator to about 50° are always present, although prominence activity in these zones is least at the epoch of sunspot minimum. The high-latitude zones have a different life-history. Prominence activity in these zones drops very suddenly and becomes quite inconspicuous shortly after sunspot maximum. About four years thereafter, a centre of activity develops at about latitude 45°–50°. The activity undergoes a rapid increase and at the same time the prominences extend to higher latitudes. The high-latitude zones become fully developed at the epoch of sunspot maximum.

Normal populations from Bulgaria, India (Kumaon), Nigeria, Senegal, and Iran were tested for the presence of the Australia antigen. The frequencies of the Australia antigen were as follows: Bulgaria (2.22%), India (1.31%), Nigeria (2.51%), Senegal (2.95%) and Iran (0.0%). The results are discussed.

17 examples of genetically controlled variation of LDH have been encountered in a survey of 1331 Indian blood samples collected in Calcutta and Madras. 15 of the variants (10 in Calcutta and 5 in Madras) were identical and have been given the trivial name ‘Calcutta-1’. The other 2 examples were found in Madras and have been called ‘Madras-1’. ‘Calcutta-1’ is an A-subunit variant, whilst ‘Madras-1’ is a B-subunit variant. The overall frequency of LDH variants in India (1.28 per cent) is among the highest reported for any population in the world.

IN two earlier communications1,2I drew attention to the fact that the discrepancy between theory and observation in respect of the light curves of meteors pointed out by Hawkins and Southworth3apparently necessitates a modification of the conventional theory of meteor luminosity. There is a better fit between theory and observation if the luminous efficiency factor is assumed to be proportional to the atmospheric density at every point of the meteor trail. However, no physical justification was adduced for such an assumption.

Summary 204 placental samples from a German population were screened for variants of mitochondrial glutamic oxalo-acetic transaminase. Three variants were found occurring at a frequency of 1.47%. This is comparable with frequencies reported in other Caucasian populations. No variants of the soluble form were found.

INVESTIGATIONS of the relation between wind and pressure in the extra-tropical latitudes show that in the case of large-scale flow the actual wind does not deviate much from the geostrophic wind. Similar investigations at low latitudes have been few. It is generally realized that on account of the small value of the Coriolis parameter at low latitudes one should be cautious in extending considerations based on quasi-geostrophic balance to such latitudes.

IN one of a series of papers on the physical theory of meteors, Jacchia1has pointed out that while the observed decelerations and light curves of bright meteors are in good agreement with the simple ballistic theory, the fainter meteors photographed with the Baker Super Schmidt cameras show startling anomalies. He has adduced evidence to show that the theory of progressive fragmentation of the meteoroid offers a simple explanation of the observed anomalies.

THE luminosity equation for the trail of a meteor is: where I is the luminous intensity at any point of the trail, is the rate of ablation of the meteoroid at that point, ν is the velocity of the meteoroid, and τ is the luminous efficiency factor which determines what fraction of the kinetic energy of the ablated atoms is converted into visible light radiation. It is generally assumed that for bright photographic meteors τ = τ0ν, where τ0is a constant1,2. The luminosity equation therefore becomes : This means that the maximum luminosity of the trail will correspond to the level of maximum rate of ablation of the meteoroid.

THE most conspicuous and readily observed feature of a normal sunspot is a dark central umbra surrounded by a less dark penumbral fringe which, under good seeing conditions, appears to be composed of converging filaments directed radially inwards. Secchi1concluded from his visual observations that the penumbra is brighter at its inner edge, that is, towards the periphery of the umbra and darker at its outer edge. This feature is clearly shown in his drawings of sunspots.

THE Raman spectrum of heavy water was first studied by Prof. R. W. Wood1, who obtained a strong band at 2517 cm.−1. For the vapour of heavy water, Rank, Larsen and Bordner2found a line at 2666 cm.−1, while Wood has reported a line at 2601 cm.−1. These results are evidently incomplete. In view of the great interest attached to this substance, it appeared worth while to re-examine the matter, using 50 gm. of 99.2 gm./lOO gm. D2O ( 1.1049) supplied by the Norsk Hydro-Elektrisk Kvaelstofaktieselskab. The Raman spectrum of the substance was photographed with a Hilger two-prism spectrograph with about 72 hours exposure, and is reproduced as Fig. 1.

IT is well known that the daily international magnetic character figure Ciconstitutes a valuable index for classifying days according to their magnetic activity averaged over a large part of the earth. As a measure of the intensity of geomagnetic disturbance, Ciis in fact comparable to the Zurich relative sunspot number S, which is a recognized measure of solar activity. Daily Civalues are available in an unbroken sequence from 1884 onwards.