Biomedical subjects
R Brdicka
Publications and source records attributed to R Brdicka.
[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.
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.
Preclinical diagnostics for polycystic kidney disease.
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[Thoughts on the pressing nature of ethical problems in modern genetics].
Reflections on old and new ethical problems of medical genetics stimulated by new diagnostic possibilities and needs which should stimulate reflections of the largest possible number of doctors as well as lawyers and all those who ought to take a stand in the matter.
[Ethical problems in modern genetics. Results of a questionnaire].
New findings on the possible application of DNA diagnosis in the prevention of hereditary diseases are associated also with ethical problems of medical genetics. A questionnaire programme evaluated the views of respondents (743) on four groups of questions: 1. state of information on health status, 2. examination of members of the family, 3. compulsory treatment, 4. preventive measures. The authors sought mutual associations between the replies to individual questions and characteristics of respondents. Development of medicine calls for interdisciplinary health education and the solution of newly arisen ethical and legal problems.
[An alpha-satellite DNA sequence, alpha-RI-6, specific for human chromosomes 13 and 21, detected using the RFLP technic with digoxigenin labelled probes].
The authors compared two at present most widely used techniques for labelling DNA probes: a) radioactive labelling by means of the radioisotope 32P; non-radioactive labelling using the hapten digoxigenin for the visualization of the hybridization process on nylon membranes. Then sensitivity of the technique of non-radioactive labelling of heterochromatin probes was equivalent to the radioactive method.
[DNA analysis--a new tool for the identification of individuals].
The author tested the method of DNA fingerprinting on DNA of blood donors. The results indicate that the method could be introduced in forensic practice and used as a routine procedure.
Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU).
DNA haplotype data from the phenylalanine hydroxylase (PAH) locus are available from a number of European populations as a result of RFLP testing for genetic counseling in families with phenylketonuria (PKU). We have analyzed data from Hungary and Czechoslovakia together with published data from five additional countries--Denmark, Switzerland, Scotland, Germany, and France--representing a broad geographic and ethnographic range. The data include 686 complete chromosomal haplotypes for eight RFLP sites assayed in 202 unrelated Caucasian families with PKU. Forty-six distinct RFLP haplotypes have been observed to date, 10 unique to PKU-bearing chromosomes, 12 unique to non-PKU chromosomes, and the remainder found in association with both types. Despite the large number of haplotypes observed (still much less than the theoretical maximum of 384), five haplotypes alone account for more than 76% of normal European chromosomes and four haplotypes alone account for more than 80% of PKU-bearing chromosomes. We evaluated the distribution of haplotypes and alleles within these populations and calculated pairwise disequilibrium values between RFLP sites and between these sites and a hypothetical PKU "locus." These are statistically significant differences between European populations in the frequencies of non-PKU chromosomal haplotypes (P = .025) and PKU chromosomal haplotypes (P much less than .001). Haplotype frequencies of the PKU and non-PKU chromosomes also differ significantly (P much less than .001. Disequilibrium values are consistent with the PAH physical map and support the molecular evidence for multiple, independent PKU mutations in Caucasians. However, the data do not support a single geographic origin for these mutations.(ABSTRACT TRUNCATED AT 250 WORDS)
[Genes in atherosclerosis].
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[Can we eliminate hereditary diseases?].
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[New trends in applying biology to medicine--DNA polymorphism].
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Electrophoretic subtyping of phosphoglucomutase locus 1 (PGM1) polymorphism in the Italian and Czechoslovakian populations.
About 3,500 subjects from Italy and Czechoslovakia have been analyzed by acid starch gel electrophoresis for the subtyping of PGM1 polymorphism. The Italian sample included three different subgroups, from Northern, Central and Southern Italy. The allele frequencies found in the three groups do not differ significantly from each other; the observed values in the pooled sample are: PGM1S1 = 0.594, PGM1F1 = 0.118, PGM2S1 = 0.231, PGM2F1 = 0.057. In the Czechoslovakian group, which differs significantly from the Italian population, the following allele frequencies were found: PGM1S1 = 0.639, PGM1F1 = 0.118, PGM2S1 = 0.180, PGM2F1 = 0.063. The analysis of 217 families did not show any exception to Mendelian inheritance of the patterns.
Norway rat haemoglobin phenotypes: which is the original?
On the basis of the incidence of haemoglobin alleles in different populations of rats, the hypothesis is discussed that the HbbB is phylogenetically "older".
6-Phosphogluconate dehydrogenase polymorphism in some inbred lines of laboratory rats.
We examined 6-PGD isozyme patterns in laboratory rats (Rattus norvegicus) and found the phenotype S in the lines CAP/Cub, WAG/RijCub, BDV/Cub, BDVII/Cub, BDX/Cub, and the phenotype F in the lines LEP/Cub, DA/Cub, AVNj/Cub.
Linkage of alloantigenic locus H-3 and plasma esterase locus Es-2 in the Norway rat.
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Haemoglobin as a marker in bone marrow transplants of rats.
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Haemoglobin as a marker for bone marrow transplants in laboratory rats.
We made use of the genetic polymorphism of haemoglobin in the laboratory rat and developed a congenic strain LEW.Hb A differing from the original LEW strain in the type of haemoglobin. The exclusion of the histoincompatibility reactions allows a long-term follow-up of the bone marrow transplants on the basis of changes in the haemoglobin pattern.