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Biomedical subjects

R Bütler

Publications and source records attributed to R Bütler.

At least 37 records · Page 2Linked to original sources
PubMed1981

Isoelectric focusing of human red cell phosphoglucomutase (PGM1): phenotype distribution in the Swiss population - rare phenotypes.

Gene frequencies of PGM1 phenotypes as obtained by isoelectric focusing on polyacrylamide gel in the pH range from 4 to 8 were determined in 501 samples of Swiss blood donors. Results were in good agreement with the expected distribution according to the Hardy-Weinberg law. Frequencies were PGM1a1 = 0.6278, PGM1a2 = 0.1936, PGM1a3 = 0.1297, PGM1a4 = 0.0489. Comparison with other data of the white population showed no significant differences. Isoelectric points of regular and rare gene products were determined. Application of the method in routine paternity testing is discussed.

Adolescent↗
PubMed1980

[A Swiss family with the red cell antigen Pk (author's transl)].

The first Swiss family with the very rare bloodgroup Pk is described. It was possible to construct the family tree through 7 generations. Due to intermarriage between cousins, the 5 Pk people can be traced back to one of three ancestors. Coupling of the gene f[3], which leads to the production of the antigene Pk on erythrocytes when in homozygote condition, with an other blood group system, could not be recorded. Natural anti-P was found in all of the Pk peoples' serum. The haemolysing effect in an incompatible transfusion, probably due to anti-P, is shown in one example.

Blood Group Antigens↗
PubMed1980

A population genetic study on the Ag polymorphism in South African Indians and Negroids.

Two population samples from South Africa, i.e. 555 Bantu-speaking Negroids and 75 Indians, were tested for selected immunogenetic specificities comprising the Ag polymorphism. Within the Negroid sample a new Ag phenotype (i.e. the 49th) was discovered. Interpopulational comparisons involving the present two, as well as three previously studied samples, reveal characteristic differences in regard to the frequency distribution of Ag phenotypes, to the Ag allele frequencies and to the occurrence of Ag haplotypes. These results are discussed. All the data could be interpreted satisfactorily in terms of the genetic model regarding the Ag system as postulated by Bütler and his co-workers.

Black People↗
PubMed1979

[Epidemiology of hepatitis in Swiss hemophiliacs].

A total of 108 Swiss haemophiliacs (89 haemophilia A and 19 haemophilia B patients) were investigated for the presence of serological hepatitis B virusmarkers and for transaminase abnormalities; the patients were also evaluated regarding hepatitis history. 22% of the patients were found to have a history of acute clinical hepatitis. 82% showed signs of hepatitis B virus (or hepatitis Bs-antigen) exposure: 6% were shown to be hepatitis Bs-antigen carriers, hepatitis B2-antibodies were found in 71% and hepatitis Bc-antibodies in 72% of the patients. 39% of the haemophiliacs showed elevated transaminase activities; it must be assumed that a proportion of the patients of this group have asymptomatic chronic liver disease.

Adolescent↗
PubMed1979

Antibody against hepatitis A in seven European countries. I. Comparison of prevalence data in different age groups.

Using a solid phase radioimmunoassay, antibody to hepatitis A virus (anti-HAV) was determined in 3890 sera from populations in seven European countries. Prevalence of anti-HAV was lowest in Scandinavian countries and highest in Greece and France. Antibodies were found in 77 (13%) of 602 blood donors in Sweden, in 29 (17%) of 175 blood donors and women taking birth control pills in Norway, in 273 (39%) of 700 blood donors in Switzerland, in 262 (52%) of 505 blood donors in Holland, in 365 (55%) of 661 accident patients in West Germany, in 452 (75%) of 600 blood donors in France and in 530 (82%) of 647 persons in Greece. Prevalence of anti-HAV increased with age in all populations tested, indicating nearly total exposure to HAV in persons over 19 years of age in Greece and in persons over 39 years of age in West Germany, Holland and France. Antibody was found more frequently in rural than in urban populations in Greece and Switzerland. Calculation of the age-specific incidence of HAV infections suggests a remarkable decline in the exposure rate in the last few decades.

Adolescent↗
PubMed1977

Naturally occurring human antibodies with specificity for light chains of immunoglobulins.

Human sera of different categories were screened for antibodies against IgA. A surprisingly high incidence of antibodies was observed. All of these antibodies were of restricted specificity, i.e. able to react with one or a few individual IgAs from a panel of eight myeloma proteins used in the screening. In one serum of a patient with selective IgA deficiency an antibody against the allotype A2m(1) was found. Some of the antibodies were shown to belong to the IgG class. The IgA, IgG and IgM content of the antibody-containing sera was generally increased. Two different antibodies which both reacted with the same individual IgA were studied in detail. The antigen involved could not be detected in normal Caucasian sera but was detectable in some sera of patients with IgA, IgG, IgM or IgD paraproteinemia. The antigenic site was located on the light chain of the Ig molecule but no correlation with either the light chain type or the genetically determined Inv factor was evident.

Antibodies, Anti-Idiotypic↗
PubMed1976

A new genetic variant of galactose-1-phosphate uridyl transferase.

The enzyme galactose-1-phosphate uridyl transferase (E.C.2.7.7.12), which has an important function in the metabolism of galactose, exists in multiple molecular forms. The different phenotypes are genetically determined. They can be distinguished according to their electrophoretic mobility. The enzymatic activity of the different gene products varies within certain limits. A new phenotype of the enzyme has been detected in the red cells of a healthy individual. The electrophoretic migration of this phenotype is slower compared to the wild type and its enzymatic activity is lower, but still sufficient as not to cause galactosemia. An extensive family study revealed that the rare gene is inherited according to mendelian law. Independently the same gene product has been detected in two other, nonrelated individuals out of a total of 1668 samples tested. The gene frequency can therefore be estimated to 0.0009 in the Swiss population. We suggest that the new type be called Berne variant of galactose-1-phosphate uridyl transferase.

Adult↗