PubMed Health⌕ Search

Biomedical subjects

H Cleve

Publications and source records attributed to H Cleve.

At least 55 records · Page 3Linked to original sources

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↗

The mutants of the vitamin-D-binding protein: more than 120 variants of the GC/DBP system.

In this report 40 newly observed GC/DBP mutants are described. A list of the thus far identified GC mutants is presented: in addition to the three common alleles, a total of 124 Gc variants are recorded. Their population distribution is described and their relationship to the molecular features of the DBP protein is discussed. The methods currently in use for the delineation of GC mutants are briefly considered.

Africa↗

Amino-acid sequence homology of a polymorphic cellular protein from human lymphocytes and the chaperonins from Escherichia coli (groEL) and chloroplasts (Rubisco-binding protein).

The human p60 (Mr 60,000) is an abundant protein in the two-dimensional electrophoresis pattern of the cellular proteins of human mitogen-stimulated lymphocytes. The p60 shows as remarkable characteristic a genetic polymorphism with two different alleles. Electrotransfer of this protein from two-dimensional gels onto siliconized glass fiber sheets and subsequent amino-acid sequence analysis has revealed a striking homology to the known bacteria and plant chaperonins, the groEL and the Rubisco-subunit-binding protein. From this sequence homology we conclude that we have identified the human chaperonin homologue.

Amino Acid Sequence↗

Unsuitability of the assay for cell-mediated lympholysis in inbred mice for H-Y antigen determination of human cells.

This study examined the H-Y-specific in vitro restimulation of splenocytes from in vivo intraperitoneally (i.p.) primed C57B1/6 (B6) female mice. In vivo priming was carried out with human male or female fibroblasts or peripheral blood lymphocytes, respectively. It was attempted to measure the in vitro H-Y-specific activity by cell-mediated lympholysis and by cell proliferation. 3[H]Thymidine incorporation was determined in mixed lymphocyte cultures (MLCs) of xenogeneic primed female splenocytes (responder cells) and of syngeneic lethally irradiated male splenocytes (stimulator cells). The xenogeneic H-Y presentation by in vivo sensitization did not induce in the in vitro restimulation system an H-Y-specific cell proliferation or in the effector phase the generation of H-Y-specific killer cells. The assay for cell-mediated lympholysis and lymphocyte proliferation after xenogeneic priming and syngeneic in vitro restimulation is, thus, not suitable for H-Y testing of human cells.

Animals↗

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↗

Plasminogen (PLG): a useful genetic marker for paternity examinations.

The genetically determined polymorphism of plasminogen (PLG) was analyzed by isoelectric focusing on polyacrylamide gels. For analysis neuraminidase-pretreated sera were used. PLG was developed functionally by activation with urokinase and subsequent lysis of casein in an agar overlay. In a random sample of 957 unrelated healthy individuals from Southern Germany, three common phenotypes, PLG1, 2-1, and 2, and five rare variants were found. The allele frequencies were: PLG*1 = 0.7174, PLG*2 = 0.2780, and PLG*Var = 0.0046. The theoretical exclusion rate in cases of disputed paternity is 16.5%.

Adult↗

Unusual sialilation of three different rare genetic variants of serum DBP: Gc1A17, Gc1A16, and Gc1A11.

The proteins of three anodal Gc1 variants, Gc1A16, 1A11, and 1A17, are characterized by the most acidic isoelectric points observed so far among the different Gc mutants. Stepwise removal of N-acetylneuraminic acid (NANA) by treatment with neuraminidase was performed to estimate the degree of sialilation of these Gc variants. The results indicate that both proteins, the anodal and the cathodal component of these Gc1 mutants, carry sialic acid residues. This observation is remarkable in so far as usually only the anodal component of the Gc1 protein contains NANA and only a single residue. From the experiments carried out it can be deduced that Gc1A16 has two NANA residues in the anodal and one NANA residue in the cathodal component. Gc1A16 was found in four members of three generations in a Danish family; the variant segregated as a Mendelian trait. More difficult to interpret are the results obtained with the variants Gc1A11 and Gc1A17. Gc1A11 probably has three NANA residues in the anodal and two NANA residues in the cathodal component. Gc1A11 has been observed in two mother-child pairs and is presumably also a simple genetic trait. Gc1A17 has also several NANA residues in both Gc proteins; it is suggested that the anodal component has either three or four NANA residues and the cathodal component either two or three NANA residues. Family information on this variant is not yet available.

Alleles↗

[Vitamin D-binding protein in human plasma. Analysis of genetic variation].

The vitamin-D-binding protein (DBP) also known as group-specific component (GC) is described. This transport protein for vitamin D and its metabolic derivatives has genetic variants which are disclosed by electrophoretic procedures or by isoelectric focusing. Three common and one hundred rare alleles are known. The biochemical, molecular and population genetics are briefly outlined as an example of inherited variability in man.

Chemical Phenomena↗

Improved resolution of PI (alpha 1-antitrypsin) phenotypes by a large-scale immobilized pH gradient.

PI variants and PI M subtypes were examined by isoelectric focusing in a preformed immobilized pH gradient. Conditions were found that permit reliable classification of PI variants and of most PI M subtypes: the pH gradient ranges from 4.3 to 4.8 on a polyacrylamide gel with a length of 20 cm and a separation distance of approximately 16-17 cm (delta pH = 0.025 U/cm). The PI phenotypes observed are presented.

Humans↗

Transferrin subtypes and variants in Germany; further evidence for a Tf null allele.

Isoelectric focusing (IEF) with carrier ampholytes was used for the determination of transferrin C subtypes and transferrin B and D variants in a sample of 1125 unrelated individuals from Southern Germany. The observed TfC allele frequencies were Tf*C1 = 0.7872, Tf*C2 = 0.1365, and Tf*C3 = 0.0675. The rare C subtype C6 was observed twice. A new C subtype, called C10, was observed and identified by IEF with immobilized pH gradients. The rare C subtypes C4 and C8 were also studied by this method. TfB and TfD variants were found with a heterozygous frequency of 1.53%. One new TfD was found which is located between D1 and D2 and therefore named D1-2. Evidence for a Tf null allele was obtained in a child and the putative father; they were considered to be heterozygous for an allele Tf0. The theoretical exclusion rate for paternity examinations was calculated for the Tf system and found to be 17.95%.

Alleles↗

Two new Bf S subtypes revealed by isoelectric focusing and immunofixation.

The genetic types of the properdin factor B were analyzed by isoelectric focusing on polyacrylamide gels and subsequent immunofixation. Sera from 516 unrelated, healthy individuals from Southern Germany were examined. Two new subtypes of the Bf*S allele were observed. They were provisionally named Bf*Sb1 and Bf*Sb2(b = basic), since the position of their bands is located slightly towards the cathode. Whereas Bf Sb2 has, thus far, been found only in a single individual, Bf Sb1 was found in five unrelated persons and in a mother and her child indicating a simple codominant mode of inheritance. The combined frequency of the Bf*Sb alleles was calculated to be 0.0067.

Alleles↗

Gc subtypes in the Middle East: report on an Arab Moslem population from Israel.

Gc subtypes were determined by isoelectrofocusing and immunofixation on 342 blood samples from an Arab Moslem population in Israel. Observed allele frequencies were: Gc1F 0.2120, Gc1S 0.6023, and Gc2 0.1857. Those are similar to formerly reported frequency data for other Middle Eastern populations. A discriminant analysis, performed on data from 35 populations, resulted in a satisfactory classification of population groups related through geographic and racial origin.

Carrier Proteins↗

Isoelectric focusing with immobilized pH gradients for the analysis of transferrin (Tf) subtypes and variants.

The human serum transferrin (Tf) system was analyzed by isoelectric focusing (IEF) with immobilized pH gradients. For the demonstration of the genetic variability the Fe1-Tf region was chosen. The pH range suitable for analysis of the Tf system was pH 5.20 to pH 5.75. The phenotypes of the common six TfC subtypes are described. No further heterogeneity among TfC1, TfC2, and TfC3 was noted. Aslo presented are the phenotypes of the TfC6 subtype, and of three different TfB and three different TfD variants. IEF with immobilized pH gradients appears to be a suitable method for the analysis of the inherited transferrin polymorphism.

Acrylic Resins↗

A deficiency mutant of the Gc system.

In the course of a paternity investigation an apparent mother-child incompatibility was observed in the Gc system. An extensive family study was undertaken to test the hypothesis of a silent gene or null allele responsible for the contrary phenotypes: the mother had the type Gc 2, the son was GC 1. The apparent incompatibility was due to a "pseudo" silent allele, called Gc * 1, which controlled a group-specific component with extremely reduced serum concentrations. This double-band mutant could be differentiated from the Gc 1S bands by two-dimensional electrophoresis: isoelectric focusing (IEF)/6 M urea IEF. The allele Gc * 1 was found in 12 persons from this family, it was not associated with any apparent disease state. Also present in this family was the variant Gc 1C1. Pedigree analysis revealed a possible (not significant) distorted segregation ratio for the allele Gc * 1C1, which was found in 22 of 33 offspring from marriages with one parent heterozygous for Gc * 1C1.

Adult↗

The polymorphism of the vitamin D-binding protein (Gc); isoelectric focusing in 3 M urea as additional method for identification of genetic variants.

Since the last report numerous new DBP (Gc) variants have been observed; at present a total of 84 different mutants can be distinguished. Several of them have similar electrophoretic mobilities and/or isoelectric points of conventional isoelectric focusing (IEF). IEF in polyacrylamide gels in the presence of 3 M urea is a convenient and efficient method for the detection of hidden variation.

Carrier Proteins↗

alpha 1-Antitrypsin (Pi) types and subtypes in the Tyrolean population.

Since nine patients with infantile liver cirrhosis or hepatopathy associated with the Pi ZZ phenotype had been observed in recent years in the Children's Hospital of the University of Innsbruck, Tyrol, the distribution of the Pi types and the PiM subtypes was determined in the Tyrolean population. Apparently healthy blood donors (868) from different regions of Tyrol were examined. Isoelectricfocusing was used for classification of Pi types. The frequency of the allele PiZ was 0.0138, which corresponded to the range observed in other Middle European populations. The frequencies for the suballeles of PiM were PiM1 = 0.7062, PiM2 = 0.1480, and PiM3 = 0.1037. PiS had a frequency of 0.0225, the other rare alleles occurred with a combined frequency of 0.0058.

Alleles↗