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S Weidinger

Publications and source records attributed to S Weidinger.

At least 55 records · Page 3Linked to original sources
PubMed1991

Genetic polymorphism of alpha-2-HS-glycoprotein in a Spanish population.

The genetic polymorphism of alpha-2-HS-glycoprotein (AHSG) was analyzed in 489 unrelated individuals living in Madrid (central Spain), by isoelectric focusing in miniaturized polyacrylamide gels followed by immunoblotting. The allele frequencies were estimated to be 0.7147 and 0.2771 for AHSG*1 and AHSG*2, respectively. In addition to the common alleles, 3 rare variants (AHSG*3, AHSG*10 and AHSG*11) have been found in this study.

Alleles↗
PubMed1991

[Dynamic measurement of pressure distribution on the foot sole of diabetic patients and a comparison group].

A new method known as pedography enables the measurement of plantar pressure while walking. Different areas on the sole can be separately analyzed by means of a personal computer. We studied plantar pressure in 20 patients walking normally on a horizontal platform. Four different stages of weight bearing were investigated, namely 0, 10, 20, and 30 kg, in the ten diabetics and ten non-diabetics. All diabetic suffered from peripheral neuropathy, which was clinically proven as well as a reduction in nerve conduction velocity in the peroneal nerve. Non-diabetics showed no abnormal clinical findings on the lower extremities and nerve conduction velocity was within the normal range. The mean age and size differed between the diabetics and non-diabetics 52 +/- 5 versus 37 +/- 7 and 178 +/- 5 versus 185 +/- 4. Body weight was equal (84 +/- 6 versus 85 +/- 5 kg). We found no significant difference in maximum pressure on the heel, though there were differences on the fore-foot. Diabetics showed a higher maximum pressure already without weight bearing and reached a plateau at the 10 kg level, which was not exceeded at the higher stages of weight bearing. In summary, diabetic patients with neuropathy are subjected to very high plantar pressures at relatively low stages of weight bearing. Pedography enables preventive measures to be undertaken in time, e.g. prescription of orthopaedic insoles.

Body Weight↗
PubMed1990

Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant.

By sequence analysis of the complete protein-coding region of the human alpha-1-antitrypsin gene using polymerase chain reaction techniques, we have characterised one of the normal variants, M3. We have identified a single point mutation between M1 Val213 and M3 at codon position 376 which is a GAA(Glu) to GAC(Asp) transversion.

Amino Acid Sequence↗
PubMed1990

Variation of alpha 1-antitrypsin glycoprotein microheterogeneity in hepatic postresuscitation disease.

Microheterogeneity of the glycoprotein alpha 1-antitrypsin has been investigated sequentially by high resolution isoelectric focusing in a child with the proteinase inhibitor MS phenotype after near-drowning. A band-splitting with additional cathodal fractions exhibited migration from the most cathodic to the anodic positions of the glycoprotein isoforms in the course of post-resuscitation disease. The pattern may reflect the time- and stage-dependent hypoxic and post-hypoxic effects on hepatocellular metabolic zonation.

Humans↗
PubMed1990

Characterization of the normal alpha 1-antitrypsin allele Vmunich: a variant associated with a unique protein isoelectric focusing pattern.

alpha 1-Antitrypsin (alpha 1AT), the major serum inhibitor of neutrophil elastase, is a highly polymorphic protein associated with isoelectric focusing (IEF) patterns typical for each variant. alpha 1AT Vmunich, a previously unreported normal alpha 1AT variant, has a unique IEF banding pattern in which the 7 and 8 alpha 1AT protein bands focus with the normal M-type 7 and 8 bands, despite the fact that the major fraction of the Vmunich protein focuses in the "V" region of the IEF gel. To characterize the molecular basis of this variant and its unique IEF pattern, DNA sequence analysis of the coding exons of the Vmunich alpha 1AT gene was carried out using the polymerase chain reaction. The Vmunich allele differed from the common normal M1(Val213) alpha 1AT allele by a single nucleotide substitution of cytosine for adenosine, with the resultant amino acid change Asp2 GAT----Ala GCT. Inheritance of the allele was confirmed by family analysis using allele-specific amplification with the polymerase chain reaction. The Asp2----Ala mutation explains the cathodal position of the Vmunich protein on IEF, as there is a substitution of a negatively charged amino acid by a neutral one.(ABSTRACT TRUNCATED AT 250 WORDS)

Alleles↗
PubMed1990

Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg.

Weidinger et al. recognized a rare deficient PI-variant, named PI Zaugsburg (PI Zaug), by using isoelectric focusing with a narrow pH gradient. The serum alpha 1-antitrypsin (alpha 1AT) level determined quantitatively in an individual carrying the phenotype PI M1Zaug revealed a value of 50%-60% of the normal range. The frequency of the deficient PI*Zaug allele is still unknown. Haplotyping the Zaug-affected chromosome, we found a pattern different from the common PI*Z allele described by Cox et al. Therefore, we directly sequenced the coding exons of both genes (M1 and Zaug) after PCR amplification. Zaug sequence data analysis showed the presence of the common PI*Z allele-specific mutation (M1 Glu342 GAG to Z Lys342 AAG) surprisingly occurring in an M2 ancestral gene. This is not consistent with the heretofore common finding, by Nukiwa et al. and others, that this mutation is derived from an M1 (Ala213) background gene. No further mutations were found in the PI Zaug gene.

Alleles↗
PubMed1989

[Early childhood oligoarthritis (antinuclear antibody positive) in alpha 1-antitrypsin deficiency of the PiIZ type].

A 15 months old girl with gonarthritis, and positive antinuclear autoantibodies was found to have a genetically determined alpha 1-antitrypsin deficiency of the rare protease inhibitory (Pi) type IZ. The possible significance of a disturbed equilibrium of cellular inflammation-promoting proteases and extracellular protease inhibition for the pathogenesis of chronic arthritis is discussed using as illustration the presented case.

Antibodies, Antinuclear↗
PubMed1988

Subtyping of orosomucoid 1 (ORM1) by isoelectric focusing in agarose and polyacrylamide gels.

Genetic polymorphism of orosomucoid (ORM) has been demonstrated in several populations and comprises two structural gene loci, ORM1 and ORM2. In Caucasians three common ORM1 alleles have been shown, while the ORM2 locus is almost monomorphic. ORM1 phenotyping by isoelectric focusing in agarose or polyacrylamide gel combined with either print immunofixation or enzyme-linked immunoblotting is described, and population and family data from Denmark and Southern Germany are given. It is proposed to use a different alpha-numerical nomenclature for the phenotypes of the ORM1 and ORM2 systems.

Humans↗
PubMed1988

Two new esterase D (ESD) variants revealed by isoelectric focusing in agarose gel.

Using isoelectric focusing in thin-layer agarose gel (AGIF) with the narrow pH range of 4.5-5.4, a high resolution of esterase D (ESD) isozyme banding patterns has been achieved. Some variant phenotypes which could not be distinguished from common ESD types by conventional electrophoresis have shown different patterns after AGIF. The IEF method permitted the distinction of two further variants in the ESD system, tentatively named ESD Rehren and ESD Ravensburg. We recommend, therefore, that for the classification of ESD phenotypes a high resolution IEF technique should be used.

Alleles↗
PubMed1988

Further evidence of a silent plasminogen (PLG) allele in two paternity cases.

Routine paternity testing has yielded two different cases of an apparent inverse homozygosity in the plasminogen (PLG) system. In one case, the child presented the phenotype PLG A and his putative father the type PLG B. The alleged father could not be excluded from the paternity in 25 additional blood group marker systems (biostatistical probability of paternity W greater than 99.75%). In the other case an incompatibility was found in a mother- child pair. Analysis of PLG was carried out by isoelectric focusing on neuraminidase-treated sera. In both cases the immunologic and functional detection showed weaker banding pattern of the affected PLG types. The assumption of a silent allele in the PLG system was confirmed by quantitative investigations. The allele frequency of PLG*Q0 in the South German population was estimated to be 0.0013. In the same sample the variant PLG A3 has been shown to be polymorphic.

Alleles↗
PubMed1988

AIDS: no association with the genetic systems GC (D-binding protein), ORM (orosomucoid = alpha-1-acid glycoprotein), and A2HS (alpha-2-HS-glycoprotein).

In a sample of 97 HIV-1 seropositive persons which comprised 34 patients with AIDS, 30 patients with persistent generalized lymphadenopathy or with AIDS related complex and 33 persons who were without symptoms and called "healthy", three genetic marker systems were examined: 1) GC, the group-specific component of serum which is identical with the vitamin D binding protein (DBP) of serum, 2) ORM, the acute phase protein orosomucoid = alpha-1-acid glycoprotein of serum, and 3) A2HS, the alpha-2-AS glycoprotein of serum. The distribution of the genotypes and of the alleles in the sample of AIDS patients and of HIV-1/positive persons was not different from the distribution in control groups. An association between susceptibility and/or resistance for AIDS and these genetic marker systems was not observed.

Acquired Immunodeficiency Syndrome↗
PubMed1987

Agarose gel isoelectrofocusing of UDP-galactose pyrophosphorylase and galactose-1-phosphate uridyltransferase. Developmental aspect of UDP-galactose pyrophosphorylase.

The uridine diphosphogalactose pyrophosphorylase activity has been determined in human adult and fetal tissues as well as blood of various ages by measurement of UDP-galactose production from gal-1-p and UTP. The highest activity was found from adult liver in which the specific activity was about 5% of the gal-1-p uridyltransferase activity. In general adult tissues had a somewhat higher activity than the corresponding fetal tissues except erythrocytes in which fetuses had a 5-10 times higher activity than adults. From normal blood the pyrophosphorylase activity in erythrocytes decreased with age, but in the case of galactosemia the decrease with age was not distinct. According to agarose gel isoelectrofocusing studies, at least two isozyme forms for UDP-galactose pyrophosphorylase exist with the activity bands between pH 6.0-6.15. The patterns of AGIF bands of pyrophosphorylase varied according to the age of the samples, suggesting the development of the isozyme forms of pyrophosphorylase to be age-dependent. Uridyltransferase, on the other hand, resolved into multiple bands between pH 5.1-5.6 on agarose gels and the patterns varied according to the variants but not to the age. Significance of the decrease in the pyrophosphorylase activity in erythrocytes with age as well as of the difference in AGIF bands between normal and the galactosemic were discussed with regard to the pathology of classical galactosemia.

Adolescent↗
PubMed1987

Three new orosomucoid (ORM) variants revealed by isoelectric focusing and print immunofixation.

Phenotypes of orosomucoid (ORM) in human sera have been analysed by isoelectric focusing and print immunofixation. After neuraminidase treatment the band patterns indicated that the polymorphism of the structural locus ORM1 is controlled by three autosomal codominant alleles. According to the previous nomenclature they were called ORM1F1, ORM1F2, and ORM1S. In a study of 272 unrelated individuals from southern Germany, five of the six expected common ORM1 subtypes were observed. Furthermore, we found three ORM variant phenotypes which have not been reported previously. These variants were characterized by additional bands in a cathodal position. One variant had additional double bands and presumably represents a rare ORM1 variant named ORM1S1. Two variants had additional single bands. They were assigned tentatively to the ORM2 gene locus. While the common gene product of ORM2 may be called ORM2A, the two variants are named ORM2B1 and ORM2B2, respectively. ORM2B1 has, thus far, been found only in a single individual; the variants ORM1S1 and ORM2B2 were found in a father-child pair and a mother-child pair, respectively. The frequency for variants tentatively assigned to the ORM2 locus is very low and was calculated to be 0.0037.

Alleles↗