A new BF variant (BF S11) with information for orientation of MHC class III genes.
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Genes↗
Biomedical subjects
G Mauff
Publications and source records attributed to G Mauff.
Yersinia enterocolitica serodiagnosis: a dual role of specific IgA. Evaluation of microagglutination and ELISA.
The microagglutination technique for the detection of antibodies against Y. enterocolitica, serovars 3 and 9 (corresponding to O-groups I and V), was compared with the conventional tube agglutination. An immunoglobulin class specific, indirect ELISA (polyvalent immunoglobulin, IgG, IgM, and IgA) was established employing as antigens formalinized whole bacteria ("OH"-antigens) and LPS preparations (hot phenol-water extraction). ELISA titers and net absorbancy (ELISA-"units") of single serum dilutions were in good agreement; the same was true for ELISA and agglutination results. Specificity (against healthy controls) and sensitivity of both serologic techniques were comparable. Cross-reacting antibodies against serovars 3 and 9 could be identified in the ELISA. Correct serovar-specific diagnosis was possible in 95% with a single assay (polyvalent Ig assay with LPS-antigen). The sensitivity of the LPS-ELISA was superior to the "OH" antigen assay after infections by serovar 3 strains, and antibodies were detected with LPS preparations for a longer period following reconvalescence. Specific IgA, due to its rapid decrease during reconvalescence, on one hand impresses as a valuable marker for the differentiation of recent disease from uncomplicated past infections, while persistence of IgA appears to be associated with Yersinia-induced arthritis. Persisting IgM but rarely IgA titers were characteristically found in patients with prolonged enteric yersiniosis.
Agglutination Tests↗
Linkage studies in a pedigree with Van der Woude syndrome.
A kindred segregating for Van der Woude syndrome (VWS) through five generations is described. Biochemical and serological phenotypes at 36 polymorphic marker loci have been determined, of which 27 were informative for linkage analysis to the VWS gene (LIPED 3 computer programme). Lod scores are reported and show exclusion of close linkage for most of the marker loci. Only VWS:Duffy (Fy) resulted in uniformly positive lod scores (theta = 0.0, z(theta) = 1.31).
Cleft Lip↗
The plasminogen polymorphism in South African Negro populations: genetics and anthropogenetics.
Genetic polymorphism of human plasminogen (PLG) was investigated in 1252 unrelated individuals from eight South African Bantu-speaking Negro tribes. PLG phenotypes were determined by isoelectric focusing (pH 3.5-9.5 and 5-8 gradients) of neuraminidase-treated samples and subsequent detection by caseinolytic overlay or immunoblotting with specific antibody. No significant difference in the distribution of PLG alleles among the eight ethnic groups was observed. The combined allele frequencies of the common alleles in South African Negroes were 0.6977 for PLG*A, 0.2736 for PLG*B. In addition, six rare alleles were seen: PLG*A3, *A1, *M2, *B1, *B2, *B3. The rare variant PLG*B2 was proven to segregate by autosomal Mendelian inheritance in a family. The combined frequency for the rare alleles was 0.0287. The distribution of phenotypes in the total population sample was found to be in Hardy-Weinberg equilibrium. A striking difference in PLG allele distribution between Negroes from South Africa and published Negroid frequencies from North America could be observed. This difference was also seen in comparison with Mongoloid populations; in contrast, PLG frequencies for South African Negroes were similar or almost identical to known Caucasoid distributions.
Alleles↗
Proposal for the nomenclature of human plasminogen (PLG) polymorphism.
Since its discovery, human plasminogen (PLG) polymorphism has received widespread acceptance in population genetics and forensic haematology. Due to the large number of variant alleles described, a PLG reference typing and Plasminogen Symposium was held, at which a nomenclature proposal was inaugurated. The technology of comparing PLG variants was based on isoelectric focusing and subsequent detection by caseinolytic overlay and 'Western' blotting. Typing results permitted comparison of so far described variant designations and resulted in a new nomenclature proposal for PLG polymorphism. It is recommended that the two most common alleles found in all investigated races be called: PLG*A (previously also PLG*1) and PLG*B (previously also PLG*2), the known variants with acidic pI: PLG*A1 to *A3, intermediate variants: PLG*M1 to *M5, PLG*M5 being functionally inactive, and basic variants: PLG*B1 to *B3. For future classification of newly discovered variants, samples should be compared at any of the laboratories participating in the reference typing.
Collodion↗
Another family with a silent allele of properdin factor B polymorphism (BF QO).
In five of eight members of a three generation family the existence of a silent allele of the properdin factor B polymorphism (BF QO) was indicated by immunofixation of BF electrophoretic variants and by the hemolytic overlay after isoelectric focusing of BF allotypes. This was further supported by the results of HLA-A, B, C, DR, C2, C4A, C4B, GLO-typing. BF protein was decreased in all heterozygous BF deficient family members. The absolute hemolytic activity, however, was obviously compensated for by an increased relative functional activity of the normal S or F alleles on the other chromosome.
Alleles↗
Detection of the genetic polymorphism of human C2 (native protein and C2a fragment) by immunoblotting after polyacrylamide gel isoelectric focusing.
The polymorphism of the second component of human complement (C2) was studied by means of isoelectric focusing in polyacrylamide gels followed by immunoblotting with a specific antihuman C2 antibody. The polymorphism was studied in native C2 and in the C2a fragment obtained by activation of the classical pathway with heat-aggregated human IgG. Serum samples previously typed with the hemolytic overlay technique were analyzed. They comprised samples of homozygous C2*C, C2*B, C2*Q0, heterozygous C2*BC and C2*CQ0 individuals. The patterns obtained by immunoblotting corresponded to those obtained by the hemolytic overlay technique. As expected, the homozygous C2*Q0 sample (complement C2 deficiency) did not show any band pattern. The C2a fragment presented also a polymorphic variation which correlated exactly with the native C2 polymorphism. It appears thus that the polymorphic site of the C2 protein is carried by the C2a fragment for the C2*C and C2*B variants. In addition, this method is easier to perform than the common hemolytic overlay technique and the rare C2-deficient serum is not needed.
Complement C2↗
[Menstrual toxic shock syndrome in a 17-year-old girl].
In a seventeen-year old female patient fever, vomiting, conjunctivitis, pharyngitis, hypotension, exanthema, disorientation and severe myalgia were observed on the second day of menstruation. The typical symptoms suggested the clinical diagnosis of toxic shock syndrome (TSS). During the period of reconvalescence desquamations on hands and feet occurred. From vaginal swabs and the tampons Staphylococcus aureus was recovered. In supernatants from cultures the strain was found to produce toxic shock toxin (TST). Antibodies against TST in the patients serum were not detectable for a period of 70 days after onset of the disease. The patient recovered within three weeks, relapses were not observed.
Adolescent↗
Human C4 polymorphism: pedigree analysis of qualitative, quantitative, and functional parameters as a basis for phenotype interpretations.
Ten families with 82 members were investigated for C4A- and B polymorphism in a blind trial. Phenotyping was done on neuraminidase treated sera by immunofixation and simultaneously by hemolytic overlay electrophoresis. In addition Rg, Ch, BF, C2, HLA-A, B, C, DR, and GLO were determined. After decoding the samples the reliability of blind typing was found to be 84.4% according to segregation patterns. Inconsistencies occurred mostly when A4, A2, or A92 were present. The detection of silent A*Q0 and B*Q0 alleles was more critical than that of "difficult" allotypes. The quantitation of the C4A/B ratio by densitometry of stained gels or by conventional immunochemical measurements of serum C4 level could not substantially improve the identification of A*Q0 or B*Q0. C4 dependent activity in radial diffusion hemolysis showed satisfactory correspondence with the number of expressed C4B alleles. At least three haplotypes with two C4A genes (duplicated A genes) were observed as ascertained from offspring analysis in accordance with the MHC segregation pattern. Individuals with the duplicated C4A gene (C4A*3, A*2, in the absence of any other expressed A allele or together with C4A*92) showed only partial inhibition of Rodgers antisera. Partial inhibition of Chido antisera was seen in individuals with C4B 2 (in the absence of other B allotypes). The findings support the hypothesis of at least two structural C4 loci. They also demonstrate the inconsistency of quantitative data in the recognition of silent alleles.
Alleles↗
Genetic linkage relations of the human plasminogen gene.
No evidence for close linkage was found between the human plasminogen (PLGN) locus and 35 other marker genes using the LIPED 3 computer program of Ott (1974). Although positive lod scores were found for PLGN-GC relations in females, the lack of linkage between the two loci in males demands that the reported assignment of the PLGN locus to chromosome 4 (Eiberg et al. 1981) should be considered with reservations.
Female↗
The C4 beta-chain: evidence for a genetically determined polymorphism.
Using sodium dodecyl sulphate polyacrylamide gel electrophoresis (SDS-PAGE) five different beta-chain patterns of denaturated human C4 were observed: C4 beta H, beta H greater than L, beta H = L, beta H less than L, and beta L. In 32 families with 174 offspring the segregation of C4 beta-chain types followed that of the other major histocompatibility complex (MHC) markers. It is concluded that the C4 beta-chain patterns represent a genetically determined polymorphism, coded within the known C4A and B gene region.
Complement C4↗
Enterotoxigenicity of Staphylococcus aureus strains from clinical isolates.
The enterotoxigenicity of 208 strains of Staphylococcus aureus isolated from clinical specimens and four strains isolated from food was investigated. All strains were examined for production of enterotoxins A, B, C, D, and E in cellophane-over-agar cultures using a modified optimum-sensitivity-plate method. Strains from systemic infections were also examined for production of toxic-shock toxin. The overall frequency of enterotoxigenic strains among the clinical isolates was 42%. Enterotoxin A was the predominant enterotoxin found among positive strains (45/88). Enterotoxins B to E were found in decreasing order of frequency. Twenty-three strains produced two enterotoxins and one strain three toxins. A significant association was observed between multi-resistance of strains (defined as resistance against penicillin and at least two other antibiotics) and enterotoxin B production. Strains from phage groups I and III produced predominantly enterotoxin A. Four of the five strains producing toxic shock toxin belonged to phage group I; one was not classifiable.
Bacteriophage Typing↗
Multiple sclerosis: immunogenetic analyses of sib-pair double case families. II. Studies on the association of multiple sclerosis with C2, C4, BF, C3, C6, and GLO polymorphisms.
The complement component polymorphisms of C2, C4, BF, C3, C6, and the enzyme polymorphism GLO were studied in 13 sib-pair double case families with multiple sclerosis. A significant association was seen between MS patients and the C4 haplotype A4,B2 as compared with their healthy siblings. This finding seems to parallel reports on C2 hypocomplementemia in MS patients since C4 A4,B2 in normal individuals was also seen to be in linkage disequilibrium with the C2 deficiency allele (C2QO) by other investigators.
Complement C2↗
Statement on the nomenclature of human C4 allotypes.
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Complement C4↗
C6 linkage studies.
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Chromosome Mapping↗
Significance of Yersinia enterocolitica isolates and antibody titers. A prospective study in patients with enteritis and healthy controls under bacteriological, serological, epidemiological and clinical aspects.
A simple and fast isolation procedure in combination with the search for Salmonella and Shigella spp. has been applied for the screening of Yersinia enterocolitica from the faeces. The microorganisms was isolated from 31 out of 4052 patients with gastrointestinal symptoms (0.8%) and from one out of 2295 healthy individuals (0.04%). 42% of the isolates were detected from infants up to the age of 3 years. Y. enterocolitica was excreted on the average at least 22 days after the clinical onset (n = 29). In 17 out of 24 patients (71%) significant agglutinin titers were demonstrated by the first serological examination one to 13 weeks after clinical onset. Acute diarrhoea, the most prominent symptom, lasted for 15 days and was followed in one third of the cases by a protracted course of approximately eight weeks. A reliable diagnosis of "enteric yersiniosis" rests besides the uncharacteristic clinical symptoms on the isolation of the microorganism and/or the demonstration of specific antibodies in significant titers, preferable with fourfold rise or decrease.
Adolescent↗
[Properdin factor B: polymorphism, synthesis site and first case of genetic deficiency].
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Complement Factor B↗
Genetic polymorphism of rabbit C6.
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Animals↗