Ecogenetic studies in Atacameño Indians

Summary Aldehyde dehydrogenase deficiency, N-acetyltransferase variation and the polymorphisms of ¹-antitrypsin, serum cholinesterase, paraoxonase, and -aminolevulinic acid dehydratase were investigated in 180 Atacameño Indians from the North of Chile. The genetic predisposition of these individuals for possible atypical reactions against environmental agents and drugs, as well as general implications of these findings, are discussed.Dedicated to Professor Dr. H. Hilz on the occasion of his 60th birthday     

Esterase-D polymorphism in Assam by cellulose acetate electrophoresis

Summary With the help of a simplifed and quick method, cellulose acetate electrophoresis, the phenotypes of esterase D were determined in an Assamese population. The gene frequencies of Es D¹ were 0.7263 and 0.2737 for Es D².

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Zusammenfassung In einer Stichprobe aus Assam wurde mit Hilfe einer einfachen und schnellen Methode, der Cellulose-Acetat-Elektrophorese, die Bestimmung der Esterase D-Phänotypen durchgeführt. Die Genfrequenzen wurden für Es D¹ zu 0,.7263 und für Es D² zu 0.2737 bestimmt.

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Supported by the Deutsche Forschungsgemeinschaft, the Stiftung VW and the Fonds der Chemischen Industries.     

Family studies on the third component of complement (C3), 6h1-antitrypsin polymorphism (locus E1 and E2) in the area of Marburg (Germany)

Summary The polymorphisms of the third component of complement (C3), of ₁ (₁) and of pseudocholinesterase (locus E₁ and E₂) have been investigated in 97 families with 181 children from the area of Marburg. A Mendelian inheritance was observed regarding the segregation of the phenotypes of children in the systems of C3, ₁-at and E₁-locus of pseudocholinesterase.

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Zusammenfassung 97 Familien mit 181 Kindern aus der Umgebung von Marburg wurden in bezug auf die Polymorphismen der 3. Komponente des Komplements (C3), ₁ (₁) und Pseudocholinesterase (Locus E₁ und E₂) untersucht. Die Aufspaltung in die Kinderphänotypen entspricht bezüglich C3, ₁-at und Pseudocholinesterase Locus E₁ den Mendelschen Regeln.

     

Adenylate kinase polymorphism in populations in Finland (Swedes,Finns, Lapps), in Maris,and in Greenland Eskimos

Summary Starch-gel electrophoresis for adenylate kinase (AK) was performed on 2519 haemolysates from 6 population samples of unrelated males in Finland, 4 Finnish Lapp populations, the Maris (Cheremisses) in the USSR, and an Eskimo population in NW Greenland. Between the Finland Swedes and Finns no significant difference in AK polymorphism was observed and the allele frequency estimates of AK were comparable with those found in other Europeans. The indigenous pure Skolt Lapps showed absence of the AK² gene, which was also extremely low in the Fisher and Mountain Lapps. All the Lapp populations so far studied show an extremely low frequency of the AK² gene. The rarity of AK² in Lapps may offer a better approach to the estimation of intermixture than certain other genes which vary in frequency in different Lapp populations. Among the Maris AK² frequencies are lower (0.017) than among other Europeans. The AK² was also very low (0.016) in the Greenland Eskimo population on Augpilagtok Island.The results obtained for the AK phenotypes in 149 Lapp families and in 84 mothers and their children are in agreement with the hypothesis that AK¹ and AK² are alleles at one and the same autosomal locus. The present family and mother-child studies add further evidence for the acceptance of the AK system as a valuable tool in cases of disputed paternity.Supported by the Finnish National Research Council for Medical Sciences, the Finnish Academy of Science and Letters, the Wenner-Gren Foundation for Anthropological Research and the Deutsche Forschungsgemeinschaft. Preparations were partly obtained as a gift from Boehringer GmbH, Mannheim, Germany.     

Genetic studies in Ecuador: Acetylator phenotypes,red cell enzyme and serum protein polymorphisms of Shuara Indians

Population genetic studies of Shuara Indians in Ecuador are performed for GPT, AP, PGM₁, Ak, EsD, 6-PGD, Hp, Gc, C3, Bg, ChE, Tf, Pi, Bf phenotypes, IgG, IgA, IgM, C3, C3-proactivator, C4 levels and acetylator phenotypes. Some systems having a polymorphism in many other populations showed a lack of some of those alleles in the population under study (C3, ChE, Tf, AK and almost absent 6-PGD, Bg, Bf).     

Distribution of alpha-1-antitrypsin and haptoglobin phenotypes in bladder cancer patients

Frequencies of the alpha 1-antitrypsin (Pi) alleles and haptoglobin phenotypes have been determined in a series of 264 North-German patients with bladder cancer. Compared to a healthy control population, we found a statistically significant decrease of Hp 2-2 phenotype in the patient series. A significant increase of the serum Pi Z allele, as previously shown for patient groups with certain other tumours, could also be confirmed for bladder cancer. Furthermore, a distinct association between a lowered M 3 allele and bladder carcinoma was observed.     

Aldehyde dehydrogenase isozyme deficiency and alcohol sensitivity in four different Chinese populations

Four different populations of China were studied regarding aldehyde dehydrogenase isozyme variation and incidence of alcohol sensitivity. While Korean and Mongolian minorities in the north showed an isozyme I deficiency with a frequency of about 25 and 30%, 45-50% of Zhuang and Han were deficient, respectively. Adverse reactions after alcohol drinking were mainly reported by those subjects who showed the lack of aldehyde dehydrogenase isozyme I.