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Biomedical subjects

M Mańczak

Publications and source records attributed to M Mańczak.

At least 19 recordsLinked to original sources

A novel polymorphism in the cytoplasmic region of the human immunoglobulin A Fc receptor gene.

The Fc receptor for immunoglobulin A (IgA), FcalphaRI, is expressed on several types of myeloid cells, and activates them upon ligand binding. However, binding of IgA to the extracellular domain of the receptor requires previous stimulation of the cell by cytokines, and the cytoplasmic tail of FcalphaRI has been shown to play a role in this. Therefore, polymorphism in this region might affect this process. However, no changes in the amino acid sequence in this region of the FcalphaRI have so far been reported. Here, we describe for the first time a single nucleotide polymorphism in exon 5 of the immunoglobulin A Fc receptor (FCAR) gene leading to a Ser-->Gly substitution at position 248 of the mature FcalphaRI protein. Prediction of structural features suggests some changes that may affect the function of the protein to some extent. However, the Gly248 variant is quite common (4% homozygotes and 38% heterozygotes) in healthy population, suggesting a weak effect, if any, on function, at least in heterozygotes.

Amino Acid Sequence↗

Oxidase activity of ceruloplasmin and concentrations of copper and zinc in serum of cancer patients.

A balance between oxidant carcinogens and endogenous antioxidant defence is of particular relevance to the carcinogenesis. Ceruloplasmin (Cp) carries up to 90% of Cu in plasma and performs ferroxidase, antioxidant and amine oxidase activity. Cu and Zn, as trace elements, have been recognized to play an important role as cofactors of SOD. The study presents the relationship of the Cp oxidase activity and concentrations of Cu and Zn in serum of 62 patients with breast (BCA), lung (LCA), gastrointestinal (GICA) and gynecological (GYNCA) cancer. The Cp oxidase activity was determined in serum with o-dianisidine as a substrate. Cu and Zn concentrations in serum were measured by using atomic absorption spectrometry. The results of the study have shown significant increase in the mean serum Cp oxidase activity and total Cu concentrations in all patient groups compared with the control one. The total mean serum Zn concentration was found to be decreased only in LCA group as compared with the control. The effect of the cancer progress on the Cp oxidase activity and concentrations of Cu and Zn was observed within the group of all cancer patients (ALLCA) and within the GICA group. The only significant difference in Cu concentrations among various stages of the disease was observed in GICA between local and distant one. Significant positive correlation coefficients were caLculated for the Cp activity and Cu concentrations in the control group and all patients groups, also according to the cancer progress. Future research is needed to evaLuate the consequences of the elevation of the serum Cp oxidase activity and concentration of Cp, Cu and Zn for the host antioxidant-oxidant balance.

Adult↗

Human in vitro cell lines verification by minisatellite DNA restriction fragment length polymorphism.

Four families of human in vitro cell lines were tested for minisatellite restriction fragment length polymorphism (RFLP) using multilocus probes MZ1.3 and/or 33.15 after digestion of DNA with restriction enzymes HinfI or HaeIII. These results confirmed that (i) the RFLP pattern is relatively stable in established cell lines and, therefore, could be used as a specific marker of a cell line identity, (ii) the use of MZ1.3 and 33.15 probes permits the identification of hybridomas and (iii) one of the cell lines tested, a lymphoblastoid cell line HAJ, may possess a hot spot of mutation.

Cell Line↗

Studies on binding of HIV-1 p24gag peptide to HLA-Cw3+ cells.

Human major histocompatibility complex class I antigens, HLA-C, are expressed on the cell surface at approximately a tenfold lower level than HLA-A and -B. We hypothesized that the expression of HLA-C is limited by the quantity of high affinity peptides which bind to these molecules, thus allowing only a small fraction of HLA-C molecules to be transported and/or to remain stable on the cell surface. If this assumption is correct, then the addition of exogenous peptide should increase cell surface HLA-C expression. To verify the hypothesis, we pulsed lymphoblastoid cell line PAJ (HLA-Cw3+) with synthetic HIV-1 p24gag 145-152 peptide, known to be presented to T-lymphocytes by HLA-Cw3 molecule. PAJ (HLA-Cw3+) cells bound approximately two times more of the peptide than HAJ (HLA-Cw3-), and four times more than 500/C9 (HLA-Cw3-) cells. Accordingly, overnight pulsing of PAJ cells with the p24gag 145-152 peptide caused an increase in class I HLA expression detected on the cell surface by flow cytofluorimetric analysis with anti-HLA-B,C monoclonal antibodies but not by anti-HLA-A antibody. In contrast, HLA-Cw3- cells treated in the same manner did not show any increase of HLA class I expression. Our data suggest that low concentration of high affinity peptides within the cell may be one of the factors limiting cell surface expression of HLA-C molecules.

Antibodies, Monoclonal↗

A new lymphoblastoid cell line defective in class II HLA expression.

A lymphoblastoid cell line, HAJ, was derived by in vitro transformation with Epstein-Barr virus of peripheral blood lymphocytes (PBL) from a patient with renal insufficiency awaiting kidney graft. Cell surface expression of class I and class II HLA molecules was determined by flow cytofluorimetry using monoclonal antibodies and compared with that of cell line PAJ similarly derived from a healthy donor. HAJ cells expressed class I antigens at levels comparable with PAJ cells. In contrast, class II antigens were absent from the cell surface of HAJ cells while they were abundant on PAJ cells. Permeabilization and fixation of cells with acetone/formaldehyde solution revealed intracellular Ki-67 antigen but not class II HLA molecules. The genes for HLA-DR beta, DQ alpha and DP alpha were present in the HAJ genome as detected with polymerase chain reaction (PCR) using locus-specific primers amplifying a second exon. In RT (reverse transcriptase)-PCR, transcripts of DQA1 and DPA1 genes were easily detectable in PAJ (positive control) but not in HAJ cells. These results suggest a defect in HAJ cells of transcription of genes for all class II antigens. The cell line HAJ may prove to be an interesting model for in vitro studies of molecular mechanisms of the regulation of class II expression.

Biological Transport↗

[Comparison of continuous extradural analgesia during labor using 0.25% bupivacaine or mixtures of 0.25% bupivacaine and fentanyl].

We have compared effects of epidural analgesia in labour in two groups containing 35 primiparous each and in two groups containing 35 multiparous each. We have administered either bupivacaine or bupivacaine with fentanyl. We have compared duration of the 1-st and the 2-nd stage labour, efficiency of analgesia, quantity of administered bupivacaine, method of delivery and condition of the newborn. This investigation has shown that use of 0.25% bupivacaine with fentanyl requires less quantity of bupivacaine in both groups of primiparous and multiparous. The addition of fentanyl to 0.25% bupivacaine can be beneficial alternative of epidural analgesia in labour.

Adult↗

Genetic polymorphism of phosphoglycolate phosphatase (PGP) (E.C.:3.2.3.18) in the Polish population.

In a sample of the Polish population of 261 unrelated adults, six types of phosphoglycolate phosphatase (PGP) were encountered. From the distribution of phenotypes obtained, the following frequency of genes was calculated: PGP1 = 0.8429, PGP2 = 0.1399 and PGP3 = 0.0172. PGP types were also determined in 12 families with 30 children and in 55 mother-child pairs. In the group of children the observed distribution of types was consistent with assumed types. The usefulness of this system in disputed paternity cases is as high as 13.52%.

Child↗

Subtypes of the Gc gene (vitamin D binding protein) in the Polish population.

Gc subtypes were analyzed by isoelectric focusing on thin-layer polyacrylamide gel. In the sample of the Polish population including 278 persons, six Gc phenotypes were encountered: 1S, 1F-1S, 1F, 2-1S, 2-1F, 2 with the following frequencies: 0.342, 0.151, 0.014, 0.360, 0.072 and 0.061. Frequency of Gc1S was 0.597, Gc1F - 0.126 and Gc2 - 0.277. It was shown that a group system of the Gc protein in the Polish population was in good agreement with Hardy Weinberg equilibrium.

Adult↗

AK phenotypic changes observed in some hematologic diseases.

Determination of AK types in 372 patients of Hematologic Clinic, revealed in many cases changes in electrophoretic pattern of AK1 type namely the occurrence of an additional protein band. These changes were observed mostly in the acute granulocytic leukemia, lymphoblastic leukemia, and aplastic anemia. In the chronic granulocytic leukemia they were present as a rule, during the blastic crisis. Phenotypic changes were transient and the repeated examinations showed disappearance of an additional band in some patients. Etiology of the changes observed is still unclear.

Adenylate Kinase↗

6-PGD types in the Polish population.

6-PGD types were examined in 467 adult, nonrelated subjects, inhabiting various regions of Poland. In the investigated sample three phenotypes were encountered: A, AB and B, having the following frequencies: 0.9191, 0.0878 and 0.0021, respectively. Frequencies of determining genes were calculated from distribution of the phenotypes with the following results: 6-PGDA = 0.954, 6-PGDB = 0.046.

Adult↗

Transferrin subtypes in the Polish population.

Transferrin subtypes were determined by isoelectric focusing on a thin-layer polyacrylamide gel, using a mixture of ampholine of three pH ranges. In a sample of the Polish population numbering 361 subjects, six Tf subtypes dependent on three alleles Tfcc1, Tfcc2, Tfcc3 were encountered. They occurred with the following frequency: 0.744, 0.212, 0.044. It was found that Tf system in the Polish population was in a good agreement with Hardy Weinberg equilibrium.

Adult↗

Atypical segregation in the GPT group system. Determination of types and activity of enzyme in families.

Examination of GPT system in 5418 paternity cases confirmed the elimination of maternity in 21 cases. The study of 12 probant families displayed the occurrence of opposite homozygous types in parents and children. The result obtained showed the presence of GPT0 gene in the families examined. Similar results were obtained by examining five families of alleged fathers whose paternity was eliminated on the same basis. In 12 families the activity of GPT was determined. In majority of subjects with GPT0 gene, markedly lowered activity was observed. This also concerned several homozygous subjects who were identical with their parents. The lowered activity of the enzyme is not present in all subjects with a "silent gene", and therefore, its examination cannot be used for detection of the gene.

Adult↗

UMPK polymorphism in the Polish population.

Studies on UMPK polymorphism were carried out in a sample of the Polish population numbering 462 subjects. The occurrence of three phenotypes was confirmed--UMPK 1, UMPK 2-1 and UMPK 2. From distribution of phenotypes, frequencies of determining genes were calculated with the following results: UMPK1-0.9762, UMPK2-0.0238, The usefulness of this system in paternity cases is 1.69%.

Electrophoresis, Starch Gel↗

Population studies on PLG group system in the Polish population.

Distribution of PLG types was studied in a sample of the Polish population numbering 230 subjects by the method of high-voltage agarose electrophoresis. Of three phenotypes encountered, PLG1, appeared with the frequency of 0.4870, PLG2-1 with 0.4391 and PLG2 with 0.0739. Assuming the hypothesis of PLG controlled by 2 alleles the frequencies of genotypes were calculated as follows: for PLG1 gene -0.71 and for PLG2 gene -0.29. PLG system in the Polish population was confirmed to be in a state of genetic equilibrium. The frequencies of PLG genes in the Polish population do not deviate from the frequencies encountered in other European populations.

Blood Group Antigens↗

Polymorphism of C3 component of complement in the Polish population. II. Rare phenotypes in C3 system.

In a sample of the Polish population including 4741 adults, 15 phenotype variants were found in 22 of them. These variants are determined by 12 rare alleles of the mean frequency 0.0023. Family studies of several probands with C3 phenotype variants have confirmed their genetic determination. They have been observed to be heterozygotes in which beside one common gene, rare codominant alleles are situated. Studies on polymorphism of C3 component carried out on numerous populations, allowed the discovery of new phenotype variants within the C3 group system. Family studies have confirmed their hereditary character and that they are determined by the alleles codominant in relation to the commonly occurring C3S and C3F. The paper presents the results of studies on the rare C3 phenotype variants encountered in the Polish population.

Complement C3↗

Polymorphism of C3 component of complement in the Polish population. I. Population and family studies.

In a sample of the Polish population numbering 4741 subjects, the three common types C3S, C3F and C3FS and 15 phenotype variants were found with frequencies 0.0046. The frequencies of C3S and C3F genes determining the common types were 0.8227 and 0.1750, respectively. Examination of 40 newborns and their mothers has revealed that C3 types are formed during the fetal life. The results of studies on 76 families with 157 children and 2332 mother-child pairs have confirmed that 3C3 types are determined by a single genetic locus in which codominant autosomal alleles are situated.

Adult↗

Bf group system in the Polish population.

In a sample of the Polish population including 890 subjects, the five common types BfSO, BfF, BfFS, BfSSO 7, BfFSO 7 and one phenotypic variant BfF1S were met. The frequencies of genes determining the common types were: BfS = 0.8337, BfF = 0.1506, BfSO, 7 = 0.0112 and BfF1 = 0.0045, respectively. Examination of 38 newborns and their mothers has revealed that Bf types are formed during the fetal life. Inheritance of Bf types was studied on 84 families with 187 children and 449 mother-child pairs. The results obtained have confirmed that Bf system is determined by a single genetic locus in which multiple codominant, autosomal alleles are situated. The occurrence of phenotypic variant Bf FIS observed in two and three generations, confirmed its hereditary character and its dependence on the rare BfF1 gene occurring with the BfS gene.

Adult↗