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R Brdicka

Publications and source records attributed to R Brdicka.

At least 55 records · Page 3Linked to original sources
PubMed1995

[The human genome--chromosome 3].

The hitherto little investigated third human chromosome contains genes, the pathogenic alleles of which are responsible for some diseases, in particular retinitis pigmentosa (locus RHO), von Hippel-Lindau syndrome (VHL), epidermolysis bullosa (COL7A1) which is also an example of the situation when different alleles and thus genotypes of the same gene lead to phenotypes which differ so much that they are classified as different diseases. Locuses of the 3rd chromosome participate also in cancerogenesis by the development of the oncogenic genotype as a result of loss of activity or as activated oncogenes. On the third chromosome there is also the locus for alkaptonuria (AKU), a rare metabolic error which is relatively widespread in the north-western part of Slovakia.

Chromosome Mapping↗
PubMed1995

[The human genome--chromosome 2].

The author presents a selective review on the gene contents of the second human chromosome, in particular with regard to pathogenesis. Among the best known ones the author mentions genes the alleles of which cause anomalies of apolipoprotein B, disorders of blood clotting caused by defects of C protein and Waardenburg's syndrome associated with disorders of the function of one of the regulating genes of the PAX family. Variable and constant gene segments of the immunoglobulin chain kappa, incl. pseudogenes, can be considered dominating. A new sphere of research interest developed in conjunction with the finding of a gene conditioning familial non-polypous carcinoma of the large intestine.

Chromosome Mapping↗
PubMed1994

[Modern methods of mitochondrial genome analysis].

DNA diagnosis uses for identification of disorders of the mitochondrial genome currently used methods of restrictive analysis by selective proliferation of selected sections of the mtDNA by polymerase chain reaction (PCR) and sequence. With regard to the considerable natural variability it is essential to evaluate very carefully the assembled results and provide evidence of a causal relationship of changes found in mtDNA and morphological, biochemical and clinical symptoms.

DNA, Mitochondrial↗
PubMed1994

[The mitochondrial genome in medicine].

Analysis of the mitochondrial genome contributed towards the elucidation of a number of deviations-deletions or point mutations in mtDNA which are considered the cause of some pathological conditions, usually neuro- and myopathies. The distribution of defective mtDNA in the affected organism is uneven not only at the tissue or organ level but there are also marked differences between individual cells. Maternal heredity assumed for the mitochondrial genome is apparent only in some families, frequently also autosomal dominant heredity is found.

DNA, Mitochondrial↗
PubMed1994

MtDNA polymorphisms in a sample of Czechoslovaks and in two groups of Italians.

Mitochondrial DNA (mtDNA) variation was investigated in a group of 185 unrelated individuals (64 Czechoslovaks, 99 Northern and 28 Central Italians) using total blood DNA and the six restriction enzymes HpaI, BamHI, HaeII, MspI, AvaII and HincII. Among the 25 patterns (morphs) found, two morphs for HaeII, one for MspI and one for AvaII were new and each was represented by a single individual from Northern Italy. They account for four of the five new types encountered in this survey, being the fifth type characterized by the presence of the very rare morph HaeII-13. The populations analysed confirm the Caucasoid characteristics of certain polymorphisms. A review of the European data available so far is reported.

Czechoslovakia↗
PubMed1993

Checking of individuality by DNA profiling.

A review of methods of DNA analysis used in forensic medicine for identification, paternity testing, etc. is provided. Among other techniques, DNA fingerprinting using different probes and polymerase chain reaction-based techniques such as amplified sequence polymorphisms and minisatellite variant repeat mapping are thoroughly described and both theoretical and practical aspects are discussed.

DNA↗
PubMed1993

Molecular follow-up of patients after bone marrow transplantation.

The follow-up of patients after bone marrow transplantation (BMT) revealed some discrepancies between red blood cell and white blood cell origin. In all six patients under study, the DNA analysis showed full engraftment, while red blood cells in some of them indicated persistence of recipient bone marrow activity. Abnormalities detected by the probe p362A (XY homologous region) in electrophoretic patterns observed during the period of graft versus host disease (GVHD) are discussed.

Bone Marrow Transplantation↗
PubMed1993

Factor VIII gene mutations and RFLP analysis in hemophilia A.

Hemophilia A is an X-linked bleeding disorder caused by a quantitative or qualitative defect of coagulation factor VIII. Since factor VIII has been cloned and several intragenic and linked DNA polymorphisms discovered, DNA analysis is an accepted and commonly used method for carrier testing in hemophilia A. Both a direct method using detection of mutation and an indirect method based on linkage between the disease and DNA polymorphism are used for this purpose. In this study, DNA samples of 110 hemophilia A patients from 99 families were screened for factor VIII gene mutation using Southern blot analysis; in seven families, mutations were detected. In 13 females from six families with identified mutation, the direct diagnosis of carriers was performed. Four intragenic (BclI, XbaI, BglI and MspI in F8C locus) and two linked polymorphisms (TaqI in DXS52 locus and BglII in DXS15 locus) were studied in members of 47 hemophilia A families. BclI-XbaI-BglI haplotypes were analyzed in 90 unrelated X chromosomes. Eighteen out of 31 females (58%) were heterozygous for at least one intragenic polymorphism, and 29 out of 31 females (94%) were heterozygous for at least one intra- or extragenic polymorphism tested. Carrier diagnosis was made in 15 out of 25 possible carriers (60%) based on intragenic and in an additional 3 out of 25 (12%) only on linked polymorphism.

DNA Mutational Analysis↗
PubMed1993

The common, Near-Eastern origin of Ashkenazi and Sephardi Jews supported by Y-chromosome similarity.

About 80 Sephardim, 80 Ashkenazim and 100 Czechoslovaks were examined for the Y-specific RFLPs revealed by the probes p12f2 and p49a,f on TaqI DNA digests. The aim of the study was to investigate the origin of the Ashkenazi gene pool through the analysis of markers which, having an exclusively holoandric transmission, are useful to estimate paternal gene flow. The comparison of the two groups of Jews with each other and with Czechoslovaks (which have been taken as a representative source of foreign Y-chromosomes for Ashkenazim) shows a great similarity between Sephardim and Ashkenazim who are very different from Czechoslovaks. On the other hand both groups of Jews appear to be closely related to Lebanese. A preliminary evaluation suggests that the contribution of foreign males to the Ashkenazi gene pool has been very low (1% or less per generation).

Adult↗
PubMed1993

[DNA diagnosis in families with autosomal dominant hereditary polycystic kidney disease].

In 1990-1992 110 patients with polycystic kidney disease adult type (ADPKD) were contacted. Forty-nine families were examined by Southern's RFLP method (standard probe 3'HVR and Pvu II restrictase). Of 424 members of these families only 25 (5.9%) refused the examination. So far 337 examinations were completed, 62 are under way. In 32 cases of 109 subjects at risk of 50% ADPKD the affection was proved with a probability higher than 95%, in 77 subjects (and 6 subjects with a 25% risk) were eliminated with an equal probability. In two families successful prenatal examinations of the foetus were accomplished. Evaluation of attitudes to DNA diagnostics revealed in our patients a greater willingness to attend postnatal examinations (up to 98%) and a smaller willingness to have prenatal examinations (21%), as compared with data published abroad.

Adult↗
PubMed1993

[Identification of HLA-D allele regions using DNA analysis].

The successful bone marrow transplantation presents the highest demands on the compatibility between donor and recipient in the antigen products of HLA system, namely in transplantations performed in unrelated individuals. Traditionally used serotyping gives rather exact results in class I HLA antigen determination, but when typing of class II antigens, at least 25% errors occur. Our papers presents a comparison of different molecular genetics methods used in class II HLA antigen typing. First results of class II HLA typing using RFLP technique, as performed in the Institute of Hematology and Blood Transfusion, are summarized.

Alleles↗
PubMed1993

[Polymorphisms in the pseudoautosomal regions of X and Y in DNA diagnosis].

New findings on the pseudoautosomal area of X and Y chromosomes potentiate the importance of this part of the human genome for direct and indirect DNA diagnosis. The submitted paper is focused on the characteristic features of the given area with special emphasis on loci used in the Institute of Haematology and Blood Transfusion during DNA monitoring of patients after allogeneic transplantation of bone marrow and which thus provide important information with a major clinical impact. The authors indicate trends of future research focused on investigation of the polymorphism of the receptor of the haematopoietic factor GM CSF in relation to its function and the influence on the pathogenesis of AML.

Bone Transplantation↗
PubMed1993

[BCR and ABL gene rearrangement in chronic myeloid leukemia].

The fact of chromosome 9 and 22 translocation connected with the fusion of BCR and ABL genes occurring in 95% patients with chronic myeloid leukemia (CML) enables us to use molecular biology methods in CML diagnosis. By means of these methods we also can prove the rearrangement of BCR gene in some cytogenetically negative cases that are without so called Philadelphia (Ph) chromosome. 51 patients with myeloproliferative disease have been tested by Southern technique during the last year. The rearrangement of BCR gene was detected in 28 patients, in 13 of 14 patients where the Ph chromosome and also in 3 of 13 patients where the Ph chromosome was not detected. The detection of BCR gene rearrangement helped us to set the diagnosis of CML more precisely.

Chromosomes, Human, 21-22 and Y↗
PubMed1992

[Genius loci].

Explore the source record for details and available documents.

Czechoslovakia↗
PubMed1992

[Use of cytogenetic and molecular biology in the detection of chronic myeloid leukemia].

The examination of the presence of Ph chromosome and of the fused gene BCR-ABL in patients with chronic myeloid leukemia (CML) is significant for the precise diagnosis and in some cases for the prognosis of the disease. We examined peripheral blood for the presence of BCR-ABL fused gene by polymerase chain reaction (PCR) in eight patients with CML consecutively cytogenetically studied before and after the bone marrow transplantation and in two patients treated with interferon. Southern blot analysis was performed before BMT in two patients and the molecular rearrangement of Ph chromosome was found. In all cases our results have proved that cytogenetic and recombinant DNA evaluations confirm each other. Due to the high sensitivity of PCR technique the minimal residual leukemia can be detected.

Blotting, Southern↗
PubMed1992

Factor VIII gene deletions in haemophilia A patients in Czechoslovakia.

Genomic DNA from 90 Czechoslovak haemophilia A patients from 81 pedigrees was analysed by Southern blotting and hybridization with factor VIII cDNA probes. Three partial deletions of the factor VIII gene were identified and characterized: a 4.8 kilobase (kb) deletion eliminating exon 10 in one patient with severe haemophilia A without inhibitor, a 6.1 kb deletion eliminating the 3' part of intron 13 and the 5' part of exon 14 in two related severe haemophiliacs, but only one of them produced inhibitor, and a 4.6 kb deletion eliminating the 3' part of intron 13 and the 5' part of exon 14 in a severe haemophiliac with high-titre inhibitor. Besides these three deletions, three different restriction site variants without apparent loss of DNA sequence were found.

Blotting, Southern↗