Further studies on associations between leprosy and genetic markers in human serum.

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.

Polymorphism of C'3 in German, Bulgarian, Iranian and Angola population

Using agarose gel electrophoresis, C'3 was typed in 4 populations. The gene frequencies of the common allele C'3S in these 4 populations were Germans (0.8071), Bulgarians (0.8149), Iranians (0.7920) and Angola (0.9532). The results are discussed.

On the genetics of the pi serum proteins.

The authors report family studies (51 families with 134 children) on the inheritance of the Pi phenotypes. Combining these data with a Norwegian family material (77 families with 323 children) published by Fagerhol and Gedde-Dahl (1969) a total of 128 families with 457 children is now available, which allows the following conclusion: The Pi phenotypes are inherited by a simple codominant mode of heredity and they are determined by a set of (at least nine) alleles. As up to now no exception to the role of inheritance has been observed, the application of the Pi system in cases of disputed paternity seems to be discussible. Some methodological problems in connection with this are shown.

Populationsgenetische Untersuchungen �ber die Verteilung von H�moglobin S und Glucose-6-Phosphat-Dehydrogenasemangel im Bodrogk�z (Nordostungarn)

An einer Stichprobe von n=363 bzw. n=233 Individuen verschiedener Altersstufen im Bodrogkoz (Nordostungarn) wurden Untersuchungen Bezuglich der Frequenz von Hb S und G-6-PD-Mangel durchgefuhrt. Die Frequenz von Hb S betragt 0,0%, diejenige des G-6-PD-Mangels 3,9%. Bei dem zwischen Bodrog und Theiss gelegenen Bodrogkoz handelt es sich um eine Sumpflandschaft, die bis zur Drainage in den ersten Jahrzehnten dieses Jahrhunderts malaria verseucht war. Die Population des Bodrogkoz hat sich offenbar uber den G-6-PD-Polymorphismus selektiv an die Malariabelastung ihrer Umwelt angepast. — Weiterhin wird uber eine Sippe mit G-6-PD-Mangel berichtet.

Increase in transmitted resistance to non-nucleoside reverse transcriptase inhibitors among newly diagnosed HIV-1 infections in Europe

Background: One out of ten newly diagnosed patients in Europe was infected with a virus carrying a drug resistant mutation. We analysed the patterns over time for transmitted drug resistance mutations (TDRM) using data from the European Spread program.Methods: Clinical, epidemiological and virological data from 4317 patients newly diagnosed with HIV-1 infection between 2002 and 2007 were analysed. Patients were enrolled using a pre-defined sampling strategy.Results: The overall prevalence of TDRM in this period was 8.9% (95% CI: 8.1-9.8). Interestingly, significant changes over time in TDRM caused by the different drug classes were found. Whereas nucleoside resistance mutations remained con…

On the genetics of psoriasis

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.

Elektrophoretische Untersuchungen der Glucose-6-phosphatdehydrogenase in Erythrocyten von Psoriatikern

Bei 103 manifesten Psoriatikern und 100 Kontrollpersonen ohne eigene oder familiar bekannte Psoriasisbelastung wurde die Erythrocyten-G-6-PDH elektrophoretisch bestimmt. In beiden Gruppen wiesen alle Personen mit einer Ausnahme bei den Psoriatikern eine einzige Bande auf, die dem Typ B entsprach, der im allgemeinen in jeder Population der haufigste ist. Bei einem Psoriatiker konnte eine Variante schnellerer elektrophoretischer Wanderungsgeschwindigkeit jedoch mit normaler Enzymaktivitat festgestellt werden, deren genaue Identifizierung bis jetzt noch nicht moglich war.

Hp, Gc, Cp, Tf, Bg and Pi phenotypes in leprosy patients and healthy controls from West Bengal (India)

On a sample of n=601 leprous individuals and n=386 healthy controls from West Bengal (India) the question is discussed, if there are existing any associations between leprosy and several serum protein groups like haptoglobin, Gc, ceruloplasmin, transferrin, β2 I and Pi. No associations were found concerning the haptoglobins and transferrins. Certain associations came out respecting ceruloplasmin, β2 I and Pi phenotypes. However, these associations, which were found in connection with the different types and clinical courses of leprosy, should be reexamined by further research. The most striking results were obtained concerning the Gc proteins. In accordance with previously performed investi…

Untersuchungen �ber die alkalischen Serumphosphatasegruppen

The alkaline serum phosphatase groups are determined in a sample of 218 unrelated Greek males and females. Two different methods have been applied: that given by Arfors et al. (1963), and that given by Shreffler (1965). Both of them yielded nearly identical results. This seems to be important in respect to the comparison of results obtained by application of different methods. The relationships between the alkaline serum phosphatase groups and the AB0 blood groups could be confirmed. Against that no relationships to Hp-, Gc-, Gm-, Inv- and Lp-groups were to be observed. Comparing the frequencies of alkaline serum phosphatase groups in different white populations (Swedes, US-Americans, Engli…

Studies on the Australia antigen

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.

Zur H�ufigkeit der Serumprotein-Polymorphismen Hp, Gc, Gm, InV und Lp in Griechenland

The authors report the frequencies of Hp-, Gc-, Gm-, InV-, and Lp-phenotypes and alleles in a Greek sample of 218 unrelated adult males and females. The following gene-frequencies were obtained: Hp1=.2850, Hp2=.7150; Gc1=.7590, Gc2=.2410; Gm1=.1555, Gm1,2=.1015, Gm12=.7430. The phenotype InV (1) was found to be 14.6%. Lp (ax)-typing showed 17.0% strong positive individuals, 9.7% weak positive ones, and 73.3% negatives. According to Speiser and Pausch (1965) this may be interpreted as the following phenotypes distribution: Lp (a+x+)=17.0%, Lp(a+x-)=9.7%, and Lp(a-x-)=73.3%. Our data differ somewhat from data obtained by other authors, which seems to indicate heterogeneity in the distribution…

Notostraca trackways in Permian playa environments of the Lodève basin (France).

36 pages; International audience; For nearly 20 years, Dr. Lapeyrie, surgeon at Lodève, has gathered many fossils coming from the Salagou Formation of the Lodève Permian basin. They are Insects, Notostraca, plants and ichnofossils. Among the latter, appears a multitude of Arthropoda trackways, finely preserved, which were collected in the top of sequences deposited in a playa environment. The locomotion experiments undertaken with extant animals suggested allocation of the majority of these trackways to Notostraca which are also known by several hundreds of remains (carapace, appendages, body whole). From these different parts, it was described as Triops cancriformis permiensis and Lepiduru…

Populationsgenetische Untersuchungen �ber die Pseudocholinesterase-Varianten bei Ungarn und Deutschen

Zur Häufigkeit der Serumgruppen in Island

Zusammenfassung Es wird uber die Hauufigkeit erblicher Serumeigenschaften und der ihnen zugrundeliegenden Gene in Island berichtet. Folgende Gen-Frequenzen konnten beobachtet werden: Hp1 = 0,3856; Gma = 0.3934; Gmx = 0,1981; Gc1 = 0,759. Diese Werte liegen im Bereich der bisher fur europaische Populationen mitgeteilten Gen-Frequenzen. Summary A study was made of the frequencies of hereditary serum factors and of the genes governing them in Iceland. The following gene frequencies were observed: Hp1 = 0.3856; Gma = 0.3934; Gmx = 0.1981; Gc1 = 0.759. These values are within the limits of the gene frequencies found up to date in European populations. Resume La frequence des farteurs seriques he…

ABO blood groups and Australia antigen

The distribution of ABO blood in two groups of people with Australia antigen was studied (121 blood donors and 128 patients) and in 3,091 controls was investigated. There was a significant excess of A in comparison with o when the two groups were combined, and when the two groups were tested for (A + B): (AB +O) individually and together, both were found to be statistically significant. The results are discussed.

Untersuchungen zur Populationsgenetik von Island, insbesondere der Region Dalas�sla

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: p1A=.0888, p2A=.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 frequenc…

Zur Anwendbarkeit des Pi-Systems in der Vaterschaftsbegutachtung

In der vorliegenden Arbeit wird die Brauchbarkeit des Pi-Systems fur die Gutachterpraxis diskutiert. Berucksichtigt man die geringe Ausschluswahrscheinlichkeit (0,05) und die Schwierigkeiten, die sich bei der exakten Bestimmung einiger Phanotypen ergeben, so scheint das Pi-System nur von geringer forensischer Brauchbarkeit zu sein.

Transmission of HIV Drug Resistance and the Predicted Effect on Current First-line Regimens in Europe

Transmitted human immunodeficiency virus drug resistance in Europe is stable at around 8%. The impact of baseline mutation patterns on susceptibility to antiretroviral drugs should be addressed using clinical guidelines. The impact on baseline susceptibility is largest for nonnucleoside reverse transcriptase inhibitors.

Is the PGM1 locus subject to selection?

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.

Investigations on the population genetics of the alpha-1-antitrypsin polymorphism.

The results of Pi-typing on 2647 individuals from 9 populations are reported. Of the 17 phenotypes and 9 alleles described in literature, we found 12 phenotypes and 8 alleles. The population smaples differ characteristically in their allele frequencies. The allle PiM appears constantly in all populations tested with a frequency of more than 0.85. The alleles PiF (0.01–0.11), PiS (0.01–0.02) and PiZ (0.01–0.02) were also relatively frequent in all samples. All the other alleles remain below 0.01. A great increase in the number of Pi-variants was observed in the Central European area. The frequency of α1-at variants in various populations is discussed.

Associations between leprosy and serum protein groups

Serum protein group typings were done on a sample of n=173 adult healthy Negroes from the Macua tribe in Mozambique and on n=129 leprous individuals from the same tribe. Unfortunately, the type of leprosy is not known. Whilst between leprosy and haptoglobins, transferrins and Pi proteins no associations could be observed, statistically significant associations between leprosy and ceruloplasmin resp. β2 I were found. It is pointed out that these associations should be confirmed by further research on other populations and with respect to type and process of leprosy, until biological and population genetical interpretations will be possible.

Phosphoglucomutase (EC 2.7.5.1.) and adenylate kinase (EC 2.7.4.3.) typings in Koreans and Irish.

PGM1 and AK phenotypes were determined in samples from Korea and Ireland. the frequencies of PGM 1 1 genes amount to 0.916 in Koreans and 0.864 in Irish. AK1 frequencies come to 0.933 in Koreans and 0.873 in Irish.

Association between C′3 phenotypes and various diseases

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.

Untersuchungen �ber die Verteilung der Hp-, Gc- und Gm-Gruppen in Pakistan

Serumprotein polymorphisms in Iran.

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 allel…

On the genetics of psoriasis

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.

Frequencies of pseudocholinesterase variants in Icelanders, Greeks and Pakistanis.

THE formation of the human pseudocholinesterase variants is controlled by at least four alleles at one autosomal locus termed E1 (ref. 1). The four alleles are , , and (refs. 2–5). The heterozygotes have been found in remarkably uniform frequencies, about 3 to 6 per cent, in Caucasians from Europe and North America3,8–11, and also in Australian aborigines12 and Mexican Indians13, but are relatively rare among Negroes11 and Mongoloids10,11,14.

On the distribution of haptoglobin types in Iceland

A mother-child combination analysis for AB0-Hp interaction

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.

Treatment-associated polymorphisms in protease are significantly associated with higher viral load and lower CD4 count in newly diagnosed drug-naive HIV-1 infected patients

Background: The effect of drug resistance transmission on disease progression in the newly infected patient is not well understood. Major drug resistance mutations severely impair viral fitness in a drug free environment, and therefore expected to revert quickly. Compensatory mutations, often already polymorphic in wild-type viruses, do not tend to revert after transmission. While compensatory mutations increase fitness during treatment, their presence may also modulate viral fitness and virulence in absence of therapy and major resistance mutations. We previously designed a modeling technique that quantifies genotypic footprints of in vivo treatment selective pressure, including both drug …

Pseudocholinesterases and human red cell acid phosphatases in Koreans.

The authors reveal the results of pseudocholinesterase and human red cell acid phosphatase typings in a sample of 115 unrelated female Koreans aged from 20–30. No atypical pseudocholinesterase variants could be demonstrated. The frequencies of human red cell acid phosphatase alleles run up to: phA=0.231, phB=0.769, phC=0.000.

Investigations on the geographical variability of the human transferrins.

On the basis of own and from the widely scattered literature compiled materials the geographical distribution of the transferrin alleles is discussed. They reveal a characteristic distribution pattern, as the slow Tf variants produced by TfD alleles are obviously more frequent in tropical than in non-tropical populations. Considering similar results in cattle and its interpretation by Ashton (1958, 1965), it is hypothesized, that the relatively high TfΓ frequencies in tropical biotops might be a selective adaptation to their special climatic conditions. In this connection an association between slowly moving transferrin proteins in man and tolerance to hotter climates — as could be found in…

Limited cross-border infections in patients newly diagnosed with HIV in Europe

Background: International travel plays a role in the spread of HIV-1 across Europe. It is, however, not known whether international travel is more important for spread of the epidemic as compared to endogenous infections within single countries. In this study, phylogenetic associations among HIV of newly diagnosed patients were determined across Europe.Results: Data came from the SPREAD programme which collects samples of newly diagnosed patients that are representative for national HIV epidemics. 4260 pol sequences from 25 European countries and Israel collected in 2002-2007 were included.We identified 457 clusters including 1330 persons (31.2% of all patients). The cluster size ranged bet…

Red cell enzyme polymorphisms in Bulgaria.

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.

Some notes on the geographical distribution of the human red cell acid phosphatase phenotypes

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.

Investigations on the genetics and population genetics of the ?2 polymorphism

The results of studies on 49 families with 107 children and various populations of Caucasoid, Negroid and Mongoloid origin concerning the genetics and population genetics of the β2-glycoprotein I polymorphism are reported. In general the genetical model proposed by Cleve (1968) is confirmed: two autosomal alleles BgN and BgD controlling the phenotypes Bg N-N, Bg N-D and Bg D-D. However, divergences from this model were found in two families. They indicate the assumption of non-genetic factors influencing the phenotype expression rather than more complicated genetical control mechanisms. Within Caucasoid populations phenotype and gene frequencies show almost a homogeneous distribution. This …

Studies on the population genetics of the ceruloplasmin polymorphism

Phenotype and gene frequencies of the ceruloplasmin polymorphism are reported. In all populations considered here (Germans, Icelanders, Iranians, Pakistani, and Koreans) high frequencies of the allele CpB (0.978–0.996) could be observed, whilst the frequencies of the alleles CpA (0.003–0.013) and CpC (0.000–0.013) are very low.

On the population genetics of the ceruloplasmin polymorphism

The frequencies of Cp-variants in 3 European, 1 Asiatic and 3 African populations are reported. The most striking fact is the high incidence of the CpA-allele not only in the African but also in 2 European samples.

Remarks on the environmental adaptation of man.

In this paper the geographical variability of some morphological, physiological and serological traits of man is discussed with respect to the question, how far this variability can be considered as the result of selective adaptation processes. Though there is already some evidence supporting such an assumption, much more detailed and exactly planned research is necessary to clear the indubitable relations between the distribution patterns of anthropological traits and the various environmental conditions of human biotops. Particularly much more work is required to understand the causative mechanisms on which these relations are based.