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H Cleve

Publications and source records attributed to H Cleve.

At least 37 records · Page 2Linked to original sources
PubMed1991

The ITI system in South Koreans and Iranians analysed by an improved classification procedure. Distribution of alleles and description of "new" phenotypes.

Phenotype and gene frequency distributions of the inter-alpha-trypsin inhibitor (ITI) system were analysed in populations from southern Korea and from Iran. The gene frequencies of the common alleles ITI*I and ITI*2 were 0.532 and 0.422, respectively, in southern Korea, and 0.612 and 0.354, respectively, in Iran. The postulated third allele, ITI*3, was found in the homozygous form. Gene frequencies of this rare allele were calculated to be 0.042 and 0.029 in Korea and Iran, respectively. Two additional rare alleles, ITI*4 and ITI*5, determine further phenotypes found in the population from Taejon (Korea) and Iran, respectively, in combination with the common ITI*2 allele. Gene frequencies of ITI*4 and ITI*5 were calculated to be 0.006 and 0.005, respectively. For phenotype classification, untreated sera were separated by isoelectric focusing (IEF) on polyacrylamide gels followed by immunoblotting.

Alpha-Globulins↗
PubMed1991

The examination of the ITI system in disputed paternities.

106 paternity cases with a total of 114 putative fathers were examined in the inter-alpha-trypsin inhibitor (ITI) system. Analysis was performed by isoelectric focusing (IEF) of untreated sera on polyacrylamide gels. From 39 paternity exclusions, determined in other genetic systems, 7 were confirmed in the ITI system. In 75 expertises the alleged man was not excluded from fatherhood; in 68 cases the probability of paternity was W greater than 99.73%. The practical exclusion rate in the ITI system was therefore calculated to be 10.45%. The theoretical exclusion rate was determined to be 19.3%. In one paternity case the alleged father and the child showed inverse homozygosity in the ITI system, while the man was not excluded from fatherhood in 28 additional marker systems. The calculated probability of his paternity was 99.99%. The assumption of an incomplete expression of the ITI phenotypes in infants is supported by a significant deviation between the observed and expected ITI distributions at population equilibrium.

Alpha-Globulins↗
PubMed1991

A rare GC mutant in horses disclosed by isoelectric focusing and subsequent immunoprinting.

An apparent incompatibility in the GC/DBP system in a mare and her colt was found after classification by polyacrylamide gel electrophoresis. Because of this observation an analysis of the equine GC/DBP system by isoelectric focusing and subsequent immunoprinting was initiated. Further GC subtypes, however, were not encountered: the three phenotypes GC F, FS and S were also delineated by this method. The GC types in the case of disputed descent were dissolved: GC S was found in the mare and GC FS in her colt as well as in another of her male offspring. It is proposed that a rare GC mutant is responsible for this observation, namely a GC S* component which is readily classified by isoelectric focusing and immunoprinting and difficult to disclose by polyacrylamide gel electrophoresis.

Animals↗
PubMed1990

Interaction of the vitamin D-binding protein (group-specific component) and its ligand 25-hydroxy-vitamin D3: binding differences of the various genetic types disclosed by isoelectric focusing.

The three common variants of the vitamin D binding protein, also known as group specific component (Gc), namely types 1S, 1F and 2, as well as some rare variants were studied by thin-layer polyacrylamide gel isoelectric focusing in a pH 4.5-5.4 carrier ampholyte generated pH gradient, additionally containing N-(2-acetamido)-2-aminoethanesulfonic acid (ACES). Prior to isoelectric focusing, whole serum or purified preparations of the vitamin D binding protein were incubated with 25-hydroxycholecalciferol at various ligand/protein ratios. Binding differences were found for the anodal and cathodal isoforms of Gc 1 variants and also for various allelic types. Isoforms with higher isoelectric points generally had a lower affinity for the ligand than the variants with lower isoelectric points.

Calcifediol↗
PubMed1990

A monoclonal antibody against human vitamin-D-binding protein for the analysis of genetic variation in the group-specific component system (Gc).

We have developed a murine hybridoma cell line that is stable in secreting a monoclonal antibody (hDBP-1) directed against the group-specific component (Gc) molecule. The hDBP-1 is monospecific for Gc and does not crossreact with human albumin, which has 23% of its amino acid residues identical with vitamin-D-binding protein (DBP). The subclass of the antibody is IgG1 for the heavy chain, the light chain being of the kappa type. Isoelectric focusing discloses four major bands for the hDBP-1 with isoelectric points between pH 6.5 and 7.8. Binding to the antigen at different pH values was determined: there is high affinity in the physiological range and no binding at pH 3.5 and lower. In the presence of high salt concentrations, binding was reduced to about 50% at 1.5 M NaCl. The hDBP-1 recognizes the common human Gc types and the Gc of all apes and old world monkeys. No reaction was observed with the Gc of other mammals such as horses, cattle, rats, rabbits, sheep, goats and pigs. By testing hDBP-1 against 77 of the more than 120 known rare human Gc variants, it could be shown that this monoclonal antibody cannot recognize seven of these rare variants and can only poorly recognize nine. The binding site of hDBP-1 to Gc is not related to the binding site of Gc with G-actin: it recognizes Gc, the binary complex between Gc and G-actin, as well as the ternary complex between Gc, G-actin and DNase I. Competition assays with vitamin D3 and Gc in enzyme-linked immunosorbent assay indicate that the epitope of hDBP-1 on the Gc molecule may be related to the vitamin-D3-binding site.

Animals↗
PubMed1990

A "new" genetic polymorphism of a human serum protein: inter-alpha-trypsin-inhibitor.

A new genetic polymorphism of a human serum glycoprotein, the inter-alpha-trypsin-inhibitor (ITI), has been demonstrated by population and family studies. Sera were examined after neuraminidase treatment by isoelectric focusing on agarose gels followed by immunoblotting or by immunofixation with specific ITI-antiserum. Using this method, three common ITI phenotypes 1, 1-2 and 2, as well as two further rare ITI types 1-3 and 2-3 were disclosed. Genetically, these phenotypes are controlled by three allelic genes that determine a total of six phenotypes. These alleles are designated ITI*1, ITI*2 and ITI*3. The homozygous form of the third allele ITI*3 has not been found, as yet. The frequencies of ITI were examined in two population samples from Southern Germany (n = 248) and from Tyrol, Austria (n = 124). The gene frequencies of the common alleles ITI*1 and ITI*2 were 0.575 and 0.417, respectively, in Southern Germany, and 0.577 and 0.423, respectively, in Tyrol, Austria. The third allele ITI*3 was found only in the sample from Southern Germany, thus far, and was calculated to be 0.008.

Alleles↗
PubMed1989

The gene for the Lp(a)-specific glycoprotein is closely linked to the gene for plasminogen on chromosome 6.

We have studied the segregation of the Lp(a) glycoprotein phenotypes and of the plasminogen (PLG) polymorphism in three two-generation families. The inheritance of the Lp(a) gene was followed using the Lp(a) glycoprotein size polymorphism and that of the plasminogen gene, using protein and DNA polymorphisms. In the three families studied, no recombination was observed in 18 meioses. The lod score for linkage between the Lp(a) glycoprotein locus and the plasminogen locus in these families is greater than 5.0 at a recombination fraction of theta = 0. Our results show that the structural gene for the Lp(a) glycoprotein is closely linked to the gene for plasminogen on chromosome 6.

Chromosomes, Human, Pair 6↗
PubMed1989

Bulgarian Jews in Israel: genetic blood markers. Red-cell antigens, serum proteins and red-cell isozymes.

Two hundred and sixteen unrelated Bulgarian Jews were typed for the following genetic systems: ABO, MNS, Rh, Kell and Duffy of the blood groups; ADA, AK1, ACP1, ESD, GLO, PGD, PGM1 and PGM2 of the red-cell enzymes, and for the serum proteins HP, GC and PI. A comparison of observed gene frequencies with those of two other Sephardi Jewish groups, from Libya and Morocco, disclosed significant heterogeneity in several systems. This was mostly due to Moroccan Jews differing from Bulgarian or from both the Libyan and Bulgarian Jews. A comparison of gene frequencies in Bulgarian Jews with those in Oriental Jews from Iraq and in Ashkenazi Jews from Poland disclosed a similarity between the three groups in Rh, ADA, GLO, PGM1 and HP. The frequencies for the above systems in the three groups were closer to those of Middle Easterners than to those of Europeans. A different pattern was observed for GC and PI, in which Bulgarian resembled Polish Jews and differed significantly from Iraqi Jews. This probably reflects an outcome of convergent adaptive processes.

Adult↗
PubMed1989

The polymorphic human chaperonin protein HuCha60 is a mitochondrial protein sensitive to heat shock and cell transformation.

The HuCha60 protein, a polymorphic protein on two-dimensional gels of human lymphocytes, is found to be structurally and functionally related to the Escherichia coli groEL gene product: The structural homology is evident from the N-terminal amino-acid sequence analysis and from the immunological cross-reactivity with an antiserum against the E. coli groEL gene product. The functional homology is suggested by the heat sensitivity and the growth dependence of this protein. Both genetic variants of the HuCha60 occurring on the two-dimensional protein pattern of lymphocytes, the common "a" variant and the rare "b" variant, are strongly enhanced after heat shock. The expression of the HuCha60 in resting or normally growing cultures human cells is in general low, whereas in mitogen-stimulated cells or transformed cell lines the synthesis of the HuCha60 is strongly enhanced. After cell fractionation and subsequent two-dimensional gel electrophoresis and immunoblotting, the HuCha60 has been found to be mainly expressed in mitochondria. In the cytosol fraction two different molecular weight forms of the HuCha60 have been observed with low expression. Also in the nuclear fraction, HuCha60 is present in low concentration.

Cell Division↗
PubMed1988

Genetic variations of human serum beta 2-glycoprotein I demonstrated by isoelectric focusing.

Human serum beta 2-glycoprotein I was analyzed by isoelectric focusing followed by immunoprinting or immunoblotting with monospecific antiserum. Isoelectric focusing revealed a heterogeneous pattern consisting of 4 major and 4-5 minor bands with isoelectric points of the major bands between pH 5.4 and 6.2. Comparative analysis of sera from more than 400 healthy blood donors showed individual variations of band patterns: six different phenotypes were observed. A family study of 44 families with a total of 129 children demonstrated the genetic control of this variation. Presumably, three alleles, called B2G*1, B2G*2, and B2G*3, determine six phenotypes: B2G 1, 2, 3, 1-2, 1-3 and 2-3. The phenotype 3, however, has not been found in this study. An additional phenotype, noted in one serum specimen, was tentatively classified as B2G 2-4. The distribution of phenotypes and alleles in two populations, from Munich and from Tyrol, has been examined and the frequencies are presented. This genetic polymorphism appears not to be associated with inherited quantitative variations of beta 2-glycoprotein I found earlier. The inherited variations can still be recognized after treatment of sera with neuraminidase and with endoglycosidase F, although the banding pattern is altered and shifted towards the cathode. The genetic polymorphism can, therefore, not be ascribed to variations residing in the carbohydrate side chains.

Alleles↗
PubMed1988

Two-dimensional electrophoresis of human lymphocyte proteins: two-dimensional polymorphisms and paternity testing.

Genetic polymorphisms of seven human lymphocyte proteins, analyzed by two-dimensional electrophoresis, were evaluated in respect to their suitability for paternity testing. Current data of an enlarged family and population study for five proteins (p23, p30, p40, p60, p66), already described for a smaller population sample of Southern Germany, are presented together with evidence for a new polymorphic protein (p42), recently observed in our survey. These six proteins occurred in isoelectric focusing as two different variants, acidic (a) and basic (b). The genetic basis of the protein variations was ascertained (i) by the presence of homozygous and heterozygous phenotypes, (ii) by the Mendelian mode of transmission of the variants as allelic gene products within 17 families and (iii) by the demonstration of a gene-dosage dependence comparing the spot intensities in homozygous and heterozygous phenotypes. For quantitative data, laser densitometric scanning of the protein spots followed by computer-assisted quantitative evaluation of the spot intensities was performed. The allele frequencies of the polymorphic protein were calculated from the phenotype distributions within a sample of 56 unrelated individuals from Southern Germany. Gene frequencies of the common alleles ranged between 0.991 and 0.518. To discuss the suitability of the two-dimensional polymorphisms for paternity testing the theoretical exclusion probabilities were assessed for seven polymorphic proteins observed in our population sample, the six polymorphisms with two alleles described here and a further polymorphism (p75) with six alleles. For five proteins (p23, p40, p42, p66 and p75) we found sufficiently high values for the theoretical exclusion probabilities, ranging from 10% to 34%.(ABSTRACT TRUNCATED AT 250 WORDS)

Blood Proteins↗
PubMed1988

The group specific component/vitamin D binding protein (GC/DBP) system in the analysis of disputed paternities.

The group-specific component (GC) was discovered in 1959, and in the same year a vitamin D binding protein (DBP) in human plasma was found; however, their identity was established as late as 1975. In the GC/DBP system three common alleles, GC*1F, GC*1S, and GC*2, determine six GC phenotypes: 1F, 1S, 2, 1F-1S, 2-1F and 2-1S, these common alleles having been found in all human populations studied. In addition, more than 120 GC variants have been discovered, with varying frequencies in different populations. The distribution of the common GC phenotypes and the presence of rare GC variant phenotypes render the GC/DBP system useful for the analysis of disputed paternities.

Biomarkers↗
PubMed1988

Analysis of the genetic polymorphism of coagulation factor XIIIB (FXIIIB) by isoelectric focusing.

The genetic variants of the coagulation factor XIIIB (FXIIIB) were analyzed by isoelectric focusing, carried out in agarose gels and followed by immunofixation. The FXIIIB phenotypes were visualized by a combined staining procedure with Coomassie Brilliant Blue R-250 and silver nitrate. Improved resolution was accomplished in polyacrylamide gels by hybrid isoelectric focusing in immobilized pH gradients supplemented with carrier ampholytes. We examined a total of 1,604 unrelated, healthy individuals from Southern Germany. The frequencies for the FXIIIB alleles were B*1 = 0.7581, B*2 = 0.0843, B*3 = 0.1568 and B*4 = 0.0019. The theoretical exclusion rate for disputed paternity is 22.35%.

Ampholyte Mixtures↗
PubMed1988

Identification of group specific component/vitamin D-binding protein (GC/DBP) mutants by isoelectric focusing in immobilized pH gradients.

The six common genetic types of the group specific component/vitamin D-binding protein (GC/DBP) system are usually classified by isoelectric focusing in carrier ampholytes, followed by visualization of the GC proteins by immunoprinting with monospecific antiserum. In addition, more than 120 mutant GC types have been discovered. For their identification additional methods were necessary, including polyacrylamide gel electrophoresis, isoelectric focusing in the presence of 3 M urea as well as isoelectric focusing in immobilized pH gradients. The application of the last method is described in detail and several examples of GC/DBP mutants identified thereby are presented.

Gels↗
PubMed1988

Genetic polymorphism of a lymphocyte protein (p75) with six different alleles studied by two-dimensional electrophoresis: qualitative and quantitative data.

The genetic polymorphism of a human lymphocyte protein (p75) was studied by two-dimensional electrophoresis within 17 families and, in addition, 22 unrelated individuals from Southern Germany, resulting in a total of approximately 100 individuals. The cytosolic and membrane proteins from cell lysates of phytohemagglutinin stimulated and [3H]leucine labeled lymphocytes were separated by two-dimensional electrophoresis. The p75 protein with an approximate molecular weight of 75,000 occurred in six variants with slightly different isoelectric points and/or apparent molecular weights. Three common variants (a, b, and c) and three rare variants (d, e and f) could be distinguished. Among the approximately 100 individuals studied we observed 15 different phenotypes, three homozygous (p75-a, -b, -c) and 12 heterozygous (p75-ab, -ac, -bc, -ad, -ae, -be, -bf, -cd, -ce, -cf, -de, -df) phenotypes. The genetics of the p75 protein variations was ascertained by family studies and quantitative computer analysis. We were able to show a Mendelian mode of inheritance of the variants within the families and a gene-dosage dependence of the protein spots in homozygous and heterozygous phenotypes. The data allowed us to assume a polymorphic protein p75 determined by six alleles on a autosomal gene locus. The allele frequencies were calculated from the phenotype distribution within 56 unrelated individuals. The gene frequencies of the three common alleles ranged between 0.38 and 0.22 and the gene frequencies of the three rare alleles ranged between 0.01 and 0.07.

Alleles↗
PubMed1988

Genetic transferrin types and iron-binding: a comparative study of a European and an African population sample.

Two population samples, one from Europe and one from Africa, were analyzed for the distribution of genetic transferrin (TF) types, serum concentrations of TF, serum iron concentrations and free iron-binding capacities. In Europeans the distribution of the TF alleles was C1 = 0.816, C2 = 0.143, C3 = 0.037, and B2 = 0.004. In black Africans the allele frequencies were: C1, 0.823; C2, 0.104; and D1 = 0.073; TFC3 was absent. The mean serum concentrations were 362 +/- 88 mg/dl in Europeans and 528 +/- 176 mg/dl in Africans; this difference was statistically significant. The concentration of serum immunoglobulins was also elevated in black Africans although their health was reported to be normal. The serum iron concentrations in Africans were decreased; the free iron-binding capacity of TF was, thus, increased. In both population samples there was a tendency for slightly higher TF concentrations in the TF C1 subtype than the TF C2 subtype. This correlation was not statistically significant. Analysis of a larger sample is required to establish this relationship.

Alleles↗